Connective Tissue Disorders | Ask the Geneticist (SM)

Q&A about disorders characterized by defects in the connective tissue (skin, ligaments, blood vessels, support system for tissues and internal organs) of the body that are influenced in whole or part by genetic factors. Examples include Ehlers-Danlos syndrome and osteogenesis imperfecta (OI).

Other information about connective tissue disorders:
-Genetics Education Center, University of Kansas

http://www.kumc.edu/gec/support/connect.html

Subtopics

Ehlers-Danlos Syndrome (55) Hypermobility syndrome (2) Joint hypermobility (1) Marfan Syndrome (24) Miscellaneous/Unclear Diagnosis (20) Osteogenesis Imperfecta (35) Pseudoxanthoma Elasticum (PXE) (3) Stickler syndrome (4) Undifferentiated connective tissue disease (UCTD) (1) No Sub-topic (0) Showing 145 questions

Displaying: All questions - use the list above to filter results.


	Question		Date



	How do they take a sample to test for Ehlers-Danlos when I take my 8 year old to see a Geneticist? View Answer		2009-10-19


	I am a 58-year old woman. I had a sister who was born with osteogenesis imperfecta, and died at 2 years of age. Not much was known about the disease at that time, but it was obviously a very severe type. She was born with bones broken in utero, and suffered many more breaks during her short life. I have two children, both of whom are healthy. My son is now married, and he and his wife are planning to have children. My question is, how concerned should we be about this condition? Is it possible that I have inherited a recessive gene for it and that I have passed this on to my son? View Answer		2009-10-15


	My great aunt, mother, and I have the following symptoms. I have finally been identified as hypermobility and fibromyalgia. I am wondering if I should go through genetic testing, because they also said there is a chance I could have a genetic disorder. Symptoms: cronic fatigue, allerigies/sensitivities to foods, drugs, pollens, molds,dust, tension headaches, migranes, muscle stiffness, muscle soreness, mid-line shift in vision, sensitivities to light, noise, smells, TMJ, dyspareunia, vulvar vestibulitis, repeated infections, falls easy, easily injured, cold hands & feet, tendonitis in wrists, bad PMS & menstral cycles, and little weak wrists and ankles. I have two children and am worried that they are going to have the same problems as my mother and me. View Answer		2009-10-02


	Where is OI most common? View Answer		2009-10-02


	I am pregnant, due in October, and I have amelogenesis imperfecta and osteogenesis imperfecta. No one else on either side of my family seem to have either of these conditions. How likely is it that I will pass this same defect on to my daughter? View Answer		2009-09-11


	I am a 25 year-old female diagnosed with multiple issues within the past 2 years. Diagnosed with POTS & IST by an EP. I also have mitral valve regurgitation. More recently, I have been diagnosed with uterine, bladder, & rectal prolapses and I am awaiting surgery. It's a bit of a mystery given that I have never been pregnant, had children, or been obese (the opposite actually, as I am quite petite at 90lbs). The term "connective tissue disorder" was briefly mentioned by a doctor so I decided to do some research and came across EDS. I seem to have a lot of the clinical features. I also have hypermobility of some of my joints (can bring my thumb to my forearm, etc.). I'm wondering how I go about seeing a geneticist. Or can my family practitioner order blood tests? It seems like nobody here has any answers for me. Do you ever see international patients (I realize there is a high cost). With the upcoming surgery, I'm concerned that this condition will impact the outcome. View Answer		2009-08-12


	Hi i would like to know how long does it take to find out if my baby has osteogenesis imperfecta if i got the test done 6-28-09.What type of doctor do he have to go to.how can i find out if he/she has it.thanks View Answer		2009-08-08


	what specialist would I ask to be referred to to investigate a possible diagnosis of Ehlers-Danlos Syndrome hypermobility type? Also, this same child was diagnosed with Enlarged Vestibular Aquaduct Syndrome (partially deaf) and is now suffering from chronic pain localized to right ovary region (though laparoscopy shows no abnormalities) and chronic spasming of the para-vertebral musculature. We are trying to unravel the overlapping disabling layers of pain this child (now a teen recently placed in our care) suffers. We know she has 37% hyperextension in most joints and constantly dislocates/subluxates. Is it possible that the chronic back/pelvic pain is associated with E.D. syndrome? How will attaining a diagnosis help us care for this child? View Answer		2009-07-18


	Can you rule out Marfan's with genetic testing? View Answer		2009-07-13


	My friend and her 2 daughters are suffering from Ehlers-danlos. Could collagen supplements help with their condition at all? Thank you! Any info would be appreciated. View Answer		2009-07-06


	I have EDS hypermobile type. I am adopted but have had my DNA tested through the National Genographic project at Family Tree DNA. There are now 2 full sequence matches for me but the 2 differences are 309.1C and 309.2C on the HVR2 region. Could these mutations be related to EDS? There's no way for me to compare these mutations to the ones listed on the website here because they're not coded the same way. Thanks so much for any help you can offer. View Answer		2009-07-05


	Where can I get tested for eler danlo syndrome, is it just a cheek scrape? View Answer		2009-06-24


	My 15 yr daughter was diagnosed with ehlers-danlos. Her father was clinically diagnosed in the office as well due to very elastic skin and physical characteristics. Should my 21yr old daughter and I both see a geneticist for Ehlers-Danlos? Reasons I ask---I have many of the characteristics--hypermobile thumbs, fingers, joints. History of cervical instability, severe bruising, slow wound healing, , fibromyalgia(as does my mom and 21yr old daughter), scars and stretchmarks that have widened over the years with the thin satin like skin, joint dislocations, etc. My oldest daughter has thinner skin than anyone else and recently made a 6 inch jagged, tear-cut on her shin from falling on gravel. The stitches did not hold well and the dr used tape to hold the cut together. What stitches that where in stayed 4 days longer than usual. My mom has an appendix scar that was resown 2 times in hospital and now looks like a chainsaw was used. It has the same thin satin feeling skin as mine. View Answer		2009-06-14


	EDS Dx, at 14 -Severe Classical w/ multi cross-type manifestations. At 40, totally/ perm disabled & agressive Degenerative Spine Disease- ALL levels. Cauda Equina, instability, retrospondylolisthesis, ddd & hnp,masses impinging nerves & cord itself. Now, no quality of life. 18 spinal/ neuro surgeons (in 1st 2 of 4 yrs). Emergency surgery (FULL fusion+ decompression), & NOT ONE dr willing to perform surgery - (admittedly) due ONLY to the fact I have EDS. Since EDS has no treatment/cure, & has a poor Px for healing in gen'l, absolutely NO dr is willing to keep me as a patient - spine or in general, regardless of how much my condition continues to progress. As Geneticists, you are trulyTHE ONLY EXPERTS on EDS. There literally are NO other EDS specialists in this country (esp. w/ spinal knowledge). What would your personal suggestion be, to do? Or should I ask, technically is there ANYTHING that realistically can be done or is this a totally lost cause? View Answer		2009-06-10


	my husband has oi type 1, we have two children. where i live we have never seen a geneticist. my brother in law has an his two children both girls like mine have oi but not the boy. my oldest child has slight blue serlea and has hypomobilty really bad in the ankles, she is 5 and my other child is 2. they have not broken a bone . But i would like to find out if they have oi or not View Answer		2009-06-08


	Hi We lost a baby last September, we had to terminate due to severe skeletal abnormalities, the diagnosis was Osteogenesis Imperfecta Type 2a. We have now found out to be pregnant again, I am four weeks, have spoken to the hospital and won't be seeing them for anoth four weeks. This is an anxious time for us, is there a likely chance that we could also lose this baby, do you know what the recurrence risk is. We do have a happy, healthy four year old daughter together. View Answer		2009-06-05


	Hello! I'm currently a final year university student majoring in journalism and broadcasting. One of my major assignments for the Health Journalism unit I'm taking is to produce a feature article on a health issue. The topic I'm covering is Osteogenesis Imperfecta (OI)and I'm hoping as, I'd be able to organise an interview (an email interview if necessary) with a genetic counselor who could have a chat with me on the issues and concerns of the topic. It would really help build a strong platform for my article. If there are any queries, feel free to shoot through an email and I'll get back to you asap. Hope you can help or pass me along to someone who would be able to. Thank you for your time. Looking forward to hearing from you View Answer		2009-05-25


	I have Ehlers-Danlos Hypermobility Syndrome is it progressive? Thank you View Answer		2009-05-05


	My brother-in-law was told by an ER physician that he possibly has Ehlers Danlos. He is constsntly in pain and is searching for a solution or at least some answers. How do you find out if you have this? Is this a reason for generic testing? View Answer		2009-04-17


	My son and I both have Ehlers Danlos type 4 syndrome, here in NZ we dont have the wallet cards available to us so want to make my own, can u please tell me the sort of things the medical team need to know if we present in an emergency that we can add to the card. I know no angiograms, no contrast. What else should i include. Thank you for your time View Answer		2009-04-13


	Hi, I have not been formally diagnosed with EDS, except by a pt. The problems I'm having don't seem to fit the typical symptoms. My hypermobility seems to be in my upper thoracic spine, where it locks out of place. Also, my ribs are extremely hypermobile in that same area, with constant shifting , popping and grinding. This has been the most painful, and disconcerting condition I've ever dealt with. I've been to spine doctors, who tell me that the facet joints can't lock, and posterior ribs can't sublux. What should I do? Does it have to do with vegetarianism? Thanks View Answer		2009-03-24


	Osteogenisis Imperfecta run in my family. All members that I am aware that exhibit this disorder, myself included, have Type I. I am pregnant with my second child (my first is symptom free), is there a possibility that my child could be born with Types II through VIII? If a parent has one type, can the child inherit a different type? View Answer		2009-03-24


	Is the test for Ehlers Danlos Vascular a blood test or is it more invasive? Also is factor V lieden common in people with Ehlers Danlos? View Answer		2009-03-04


	May i have your opinion on my daughters.They all have blue sclera.My eldest is 6 she has been diagnosed with hypermobile joints,she is being investigated for a tethered spinal cord and has duplex kidney system with urinary reflux and uretrocele.my 2 year old looks to like she has hypermobile joints. My 8 month old has just had surgery for a tethered spinal cord(noted through a sacral dimple),she has smooth velvety skin and her joints especially those in her ankles seem really loose.They are now being refered due to the colour of their sclera for investigation for possible EDS/OI or similar condition.None of this is in either side of the family. View Answer		2009-02-19


	My parents had two children (of five) who died at birth from Osteogenesis Imperfecta Type II. There was no other incidence of the disease in either side of my family. My husband and I are expecting our second child - do we have a higher chance of having a baby with this condition? (There are no genetic diseases on his side of the family.) View Answer		2009-02-19


	I have Ehlers Danlos Syndrome classic type II as do all three of my children. I also have hereditary neuropathy with pressure palsies. My dear husband of 25 years has relapsing remitting multiple sclerosis. Can my children be screened for any of these disorders? What should they know about having children? My youngest daughter has a chronic perphorated ear drum that has failed 3 grafts; is this from EDS? Any information on what we should do next would be greatly appreciated. View Answer		2009-02-03


	I have a 15 month old daughter who has low muscle tone (mild) and is hypermobile. We saw a geneticist recently who said it may be Ehlers Danlos. We're waiting on some tests to rule out other things and she said time will tell too. She said that it appears that I am hypermobile. So, if it is ED and it came from me, what does this mean for siblings? If we have another child it appears that there's a 50% chance that child will have ED but my biggest concern is could it be more severe than what my 15 mo. old exhibits? Btw, my daughter is now close to walking but has hit all of her milestones late. Thank you for your time and any information that you can provide. View Answer		2009-01-26


	She is 40 yrs old, who has been given conflicting opinions. A cardiologist feels she could have Marfans due to her arm span (72 in) great than height (69 in), her tall, lean appearance, MVR, and POTS. Echos/aorta-grams show no dissection, aneurysm. Just the MVP/MVR & an aortic rt dia 3.5cm A geneticist and told her that he symptoms of hypermobility, MVR, loose skin, pes planus, and veins showing on her breasts (but not on her chest), are more EDS than Marf. Because the women had two vaginal deliveries (ages 28, 30) (open gallbladder and 3 knee scopes) surgical procedures with no complications, great scar healing, the geneticsist feels Vascular EDS is not she most likely has a MILD variant form of Ehlers Danlos, w/ Marfinoid features. Does having 2 deliveries and 4 surgeries without complication make EDS 4 less likely? Nobody in her family ever had an anuerysm. Her parents are in their late 80's and aunts/uncles grandparents lived to 70-92 yrs Any insight is appreciated. View Answer		2009-01-25


	My daughter has hypermotility of her joints in her arms and hands. I, her mother, started to dislocate my shoulder when I was 15 and eventually had to have surgery to stop it from dislocating at least once a year. My husband has very elastic skin in his face and bruises easily and his skin tears easily. Could this possibly be our problem? View Answer		2009-01-21


	My father just died of an ascending aortic dissecting aneurysm. His brother died of an abdominal dissection, his sister of an ascending aortic dissection. My first cousin--my father's sister's oldest son--survived an ascending aortic dissection 2 years ago, the middle son has been diagnosed with Ehler's Danlos as has his daughter and grandson. My question is--what, if anything should my brother (age 53) and I (55) do--and also our children--my 3 sons and his 2 daughters. My oldest son (30) is a marathon runner--I am very concerned. View Answer		2009-01-14


	Hello, I have always been told I have very soft doughy skin. I have a light olive skin tone. My skin can be transparent, you can see my veins all over. Many on my side of the family have this type of skin as well as my two children. We are also very flexible. I think we may have Ehlers-Danlos syndrome. I also had a small calicium deposit removed from my left hand a few years ago. 6 years later, I noticed a growing hard large lump on my forehead the size of a dime. (As well as growth between on and between my fingers. Soft bubbly growths with no fluid.) I have been to several doctors who don't know what it is and if it doesn't hurt, affect my vision or give me headaches to disregard it. I wonder if this would be Calcinosis cutis. I am unsure as to what type of specialist I should see at this point. I have seen my general doctor, as well as a dermatogolist and cosmetic surgeon. Should I seek the advice of a Genetic specialist? View Answer		2009-01-07


	i have a daughter who is almost 13. she has been plagued with medical issues since birth. currently she is dealing with:nerve hearing loss(left ear needs hearing aid),central auditory processing disorder, learning disabilities, mild cp, swelling of knees and ankles,blood in urine, osteoporosis of unknown etilogy, vitamin d defiency . she has broken the right arm 9 times.in 2004, she developed a contracture of the arm. the ortho decided to do exploratory surgery. they found a strange pink tissue that grew through the elbow and prevented her from straightening her arm. in 2008, she grew a bump that everyone thought was a ganglion cyst. they did an mri with contrast it confirmed the dx. she had surgery this morning to excise it. the dr. said when he got in there it was not a cyst. in fact he had never saw anything like it. it was a tissue that had fused all her tendons together. they have sent it to pathology. he is convinced this confirms a connective tissue disorder. what do you think? View Answer		2009-01-06


	I have Ehlers-Danlos hypermobility. In the past year i have been vomiting at night. I cannot figure out why, no rhyme or reason is obvious. Are there any conditions related with EDS. that could cause the vomiting? Is hiatel hernia a possibility, are the chances of this increased due to EDS? If so, is surgery an option, or are there complications. Also, id like to know if getting my tubes tied presents an issue. Would the procedure hold? Are there any past EDS patients who have had these procedures successfully? Thank you View Answer		2008-11-12


	I've been told I'm hypermobile and so is my son of 14 than has been having chronic joint pain since he was 12. He meets most of the Beighton criteria for hypermobility. In the past he has had abnormal allergies, irritable bowel syndrome, gait problems, vision problems, chest pains, tonsil problems. My husband's side of the family is also hypermobile and flat-footed. Should my son be tested for hypermobile joints syndromes. Where can I find an expert geneticisit who deals with hypermobility issues in California. Los Angeles is close to me. View Answer		2008-11-11


	Well, ever since I was born I've had REALLY loose joints. To be specific, my thumbs, my shoulders, my hips, and my jaw are "double-jointed" and I can hyperextend my wrists, elbows, knees, ankles, and a couple toes. I went to my orthopedic for one of my shoulders and he names a condition that usually affects the shoulders. I mentioned all of the other joint problems and he suggested a genetic disorder called EDS. I've done some research on it, and no one in my family has it or any symptoms. I know it can be caused by a deletion, so it can occur randomly throughout a group of people, but those chances are pretty rare. My appointment with the geneticist isn't until the end of December, and I'm curious. Also, lately one of my hips has been dislocating every so often when I walk, and my jaw will go "out of joint" when I eat. So I guess my question would be, if I don't have EDS, what else could it be? And I'm big into softball, is that potentially dangerous for me? View Answer		2008-11-03


	does osteogenisis imperfecta effect the brain in any way? and is it curable? View Answer		2008-10-21


	My father was diagnosed with Marfan's Syndrome and had two aortic dissections and one additional repaired aortic aneurysm before dying at age 56. He did not have a DNA test. I also received the diagnosis based on skeletal features and family history, however, my recent DNA test was negative for Marfan's and Loeys-Dietz. I have multiple Marfan-like features including bifurcated uvula, small mouth, flat feet, high palate/crowded teeth, long arms and legs (just under the criteria), short torso, and arachnodactly of the fingers, very slight scoliosis, slight osteopenia, migraines, nearsightness. I am 41, and my aorta is not enlarged,and I am normal height and weight (also taking atenolol and Cozaar). I attempted to try a DNA test on tissue from my father's autopsy but too much time has passed, and the tissue has been disposed of. My geneticist and cardiologist are at a dead end. Any suggestions on how to pursue further diagnosis? I am willing to travel, so location is not a barrier. View Answer		2008-10-09


	I have been seeking answers to my joint pain and dislocations for years and have had no luck. Just recently, a friend in the medical profession told me to read an article by Howard Levy about Ehler-Danlos Syndrome. I read it and have begun more research on the disease and have found that my symptoms relate to the hypermobolity type. My question, how do I get tested to find out if I have this genetic mutation? There is no one in my family who has been diagnosed with this but, I do believe that my mother and grandmother have the the disease based on their medical history's. Thank you for taking time to read this. View Answer		2008-09-26


	My 61 year old father passed away on July 18, 2008 after a 7 week hospitalization at Cal Pacific Medical Center following a 13 cm tear in his esophagus after ingesting a carrot. ER surg. performed to remove the torn section and cap off the bottom of his esophagus and the top of his stomach until his hematacrit could increase. (He refused blood products for religious reasons); 3 yrs prior he had aortic aneurysm, repair of his aortic arch and discending aortic valve and was on coumadin therapy for 3 yrs. They tested for Marfans but it was negative, so he was diagnosed with "Marfans like syndrome".. It is this most recent episode coupled with the earlier aortic dissection that gives us concern for a connective tissue disorder. I am the oldest of his three children (I'm his only girl) with brothers, ages 33 and 30. The doctors at CPMC said my brothers and I should be tested for a connective tissue disorder-should we and would my father's med records be provided to the geneticist? View Answer		2008-09-16


	What type of doctor is best to make a formal diagnosis of Ehlers-Danlos Syndrome? The chiropractor I saw told me she is almost certain I have this syndrome and my type could possibly be life-threatening. View Answer		2008-09-09


	Dear Sir, Iam a father of 14 months infant (premature 29weeks), since Six months (4-5 Times) he suffers from nose bleeding and vomit with blood,in the last time he vomited alot of blood and hymoglobin result was 5 only, so we had to make blood transfusion, his doctor suspect the EDS Syndrome. Is it possible? and how normal is it to have Intestinal rupture in this age? especially that we dont have Family history of EDS. I appreciate your help regards View Answer		2008-09-08


	I have a patient and also a family member who have been diagnosed with Ehlers-Danlos Syndrome, most likely of the Classical type. I am wondering if any foods or nutritients have been found that will have a healthful effect in controlling or suppressing the negative effects of this mutation. Please let me know where I might find more information about diet and this disease. View Answer		2008-08-14


	My husband has Ehlers-Danlos, we believe classical type. I know that it being a autosomal-dominant disorder that the chances it would be passed on our 50%. That's all I read about, but do genetic counselors recommend not having children with this risk? View Answer		2008-08-02


	I was diagnosed with retinal bleeding about nine years ago. Many tests were done to determine the cause for this. Nothing was found. The bleed first got bigger then started to go away on its own. Then a few years later, I was having vision problems again and upon evaluation it was discovered that the retinal bleeds were back again. More testing was done and again all results were normal. The retinal doctor sent me to a rheumatologist and he found nothing. The bleed improved again and I was told to come back for another recheck. I was injured in that eye and had to have my eye checked. The bleed was back yet again. Still, no cause for this bleed was found. The only thing that was always in my blood test was that Complement C4 was high. I saw a medical show on TV that highlighted PXE. It was very similar to my eye problems. Could this be PXE? Would this PXE cause inflamation in other areas, and Pleural and pericardial effusions? View Answer		2008-07-21


	I was dx'd in 1994 with UCTD. I had Coccidioidomycosis, disseminated, blood cult.,eye and liver bx. (+) in 1966 and then dx'd. with it again in 2006, skin and my other eye. My question is: does having UCTD somehow leave me with a higher possibility of getting other diseases? Thanks so much! View Answer		2008-06-27


	I remember that my father was told that he had very brittle bones. My brother, a doctor, thinks that he probably had osteogenesis imperfecta; but that was never specifically diagnosed. I have none of the symptoms like broken bones or hearing loss that my dad did, but I have been diagnosed with osteopenia. I have been taking Actonel for 5 years, but my bone density in several bones has decreased in the last 2 years. Treatment with Forteo or Reclast has been recommended. I wondered if my dad having OI could have anything to do with my condition and whether the Forteo and Reclast are still good options. Thank you. View Answer		2008-06-02


	My friend has Ehlers-Danlos syndrome. She also has two children with Asperger's syndrome. Are these syndromes related? View Answer		2008-05-16


	is ostogenesis imperfecta curable? View Answer		2008-05-11


	Brittle bones runs in my family . I was wondering what is the chances of my nine month old son having it also then again i have read that some cases of it can be autosomal recessive by genes from both parents combine to form a disorder. My son fell off my couch onto a concrete floor when he landed his left leg was underneath him and his ankle was bent back while he was sitting on it can cause a fracture/crack in a bone.It also runs on his mothers side of the family as well . View Answer		2008-05-05


	I have EDS 3 and or hypermobilty syndrome. I keep hurting my joints, tendons and surrounding muscles when I excerise or work. My insurance just wants to cut into me and fix my tendons. I keep ask for a MRI to see the whole picture and they keep avoiding it. Would surgery be good for my tendons or do they need to focus on my ligaments? I was wondering if there is anything I can do about the degeneration of my ligaments? View Answer		2008-04-28


	My son has seen a geneticist and we have been told he may have connective tissue disorder, but I am having difficulty finding out exactly what this means. He has midfacial hypoplasia and a ventricular heart murmer that will need surgery. Is there any way to test for this disorder? Is there anyway to know a prognosis for him? How can I tell if he has a specific syndrome within this disorder? View Answer		2008-04-12


	I have delivered a baby boy last week, he was born with very serious breathing problems & was shifted on ventilator by doctors but died after 3 days. Baby was born at 36 weeks, he had multiple problems. He had fractures in both legs & hands, his head size was large, rib cag was very short, lungs were not enough sized, difficulty in breathing & some other problems. Now doctors are saying that baby was affected by osteogenesis imperfecta & the chances of abnormality in future pregnancy is 50 percent. Kindly advice me if there is any remedy of this problem & what are the chances in future pregnancy. If there is any treatment in your country , kindly inform me. I am living in Pakistan & here medical facilities are not enough, & doctors inform me that even they cannot perform the test to know if baby was affected by osteogenesis imperfecta or not.I hope you will guide me for this. View Answer		2008-04-01


	After nearly 30 years battling an invisible illness that no one believed I had, I was finally diagnosed with Ehlers-Danlos Syndrome. Now that I'm managing it properly, my health has been restored; but, some mysteries remain that don't seem related to EDS. I am aging at a much slower rate than the rest of my peers. Puberty didn't even kick in until I was 26. I can't find any reference online saying this is even possible; but, it is. I'm experiencing it and it's been traumatizing. EDS is a genetic problem; could this? What I know for sure about me is that my serotonin transporter is in the s/l form. 3 months of searching, and I can't find any explanation for what the s/l form means. Could it be connected? Any insight would be greatly appreciated. View Answer		2008-03-25


	35year old female. Since adolescence have spontaneous dislocations of all joints and pain. Wake up with hips and entire legs hurting- relief if lay flat. Have hypermobility syndrome-no testing for Ehlers Danlos. Sitches scars look like wide bugs with long legs. Spinal MRI shows cystic lesions or hemangiomas in vertebras/neural foraminas.Born with bifurcated uvula. Laryngoscope shows submucosal cleft palate. Always had stuttering/articulation problem attributed to anxiety/fatigue. Scheduled for speech therapist, hope for answers (velopharyngeal insufficiency?) Speech interfering with work (am nurse). Could I have sticklers? Stretch marks age 13. Nearsighted since childhood. Frequent severe chest pain cardiac area. Intermittent irregular heart rhythms- No testing done yet. Am thin, 5'5". Pulsatile tinnitus. Brain MRI/MRA normal. EGD normal. Videostrobe showed paradoxical vocal cords. Do you suggest genetic testing? Thank you! View Answer		2008-03-23


	How do you tell the difference between hypermobily syndrome and EDS hypermobility type? Is it the nose? :=)And, nah, not asking for a diagnosis. Just curious! View Answer		2008-03-20


	I have recently been diagnosed with Hypermobility Syndrome after years of chronic back and leg pain. My son is also showing the early signs of the similar syndrome. In my family, I have 5 siblings, two brothers of which have Motor Neuropathy, type 5 (or 4, I'm not sure). Some of the many common links between us all are: Chronic back and leg pain, extemely painful and sensitive teeth, excessive exhaustion and sleep disorders and depression. Is there any link between these genetic disorders? What treatments are available to either cure or lessen the effects and pain? View Answer		2008-02-22


	Osteogenesis Imperfecta (most likey type I) My paternal grandmother has this disorder and has passed it to my sister & I through our father. While my father & I are extremely mildly affected my sister has had numerous fractures (above 35) and has passed this to one of her sons (both of whom have had rods inserted in the long bones). To date no one in our family with this disorder has been affected severely enough to require permanent mobility assistance. My husband & I have no live births and have now suffered two miscarriages (one blighted ovum & one missed miscarriage - gestation age 4 weeks 3 days) My ob has suggested that OI may be the cause for our recurrent loss. Understanding that the condition deals with collagen defect/quantity, is there reason to support this theory? View Answer		2008-02-18


	Dear Sir or Madam -What are the goitre surgery risks for someone in their late 40's with Marfan's Syndrome? What is the risk of abnormal bleeding? The patient nearly died when he had open heart surgery for a leaky heart valve in 2002. He was operated on by one of the UK's leading heart surgeons. He was in intensive care for 5 weeks and in and out of theatre five times. He was sedated for one week to allow his body to recover. (Two major organs failled at the same time.) He had a problem with bleeding.The goitre is compressing his windpipe by 60%, if it get to 75% it will be life threatening and he will have to be operated on as an emergency, in any hospital (and not the specialist heart hospital). He is now more than 5 years older and has a replacement valve. He is on beta blockers and Warfarin at the moment.What is the prognosis? How dangerous would surgery be? What are the chances of bleeding and other complications?Thank you. View Answer		2008-02-16


	I was wondering, if where my father had marphans and my sister (2nd born child) might have also had it, would I also be a carrier for the disease. My nephew who was born to my 2nd born sister was diagonosed with it and my concern is that my 5 year old son might have the possibility of having it. I dont want to rush him to all kinds of doctors if in fact that I need to also have it in order for him to get it. So my question is can my son still get marphans even though I myself do not have it? View Answer		2008-01-17


	I am concerned that my 6 year old son may have Ehlers Danlos Syndrome due to significant hypermobility in his joints. He also has an intermittent arrhythmia that has been noted especially with illness. This may not be related and he will be evaluated by a pediatric cardiologist in the near future. My son does not seem to meet criteria for Marfan's syn. and he has no skin findings consistent with many of the types of Ehlers Danlos Syn. He has never dislocated a joint, but his joint laxity has been thought to be associated with his late walking at 18 months and his trouble with fine motor skills. His thumb bends way back when he attempts to hold a pencil.We have no know family history of either Marfan's or EDS. My question for you is, should we take my son to a genetics clinic to evaluate him for Ehlers Danlos, or is there testing that his pediatrician can send off for this evaluation? I appreciate your help with answering this question. View Answer		2008-01-09


	Hi, I have a question in regards to the diagnosis of EDS and the Beighton criteria please...I am an ex-gymnast and have a previous mobility range in the spine that is significantly beyond what is required for the Beighton criteria (although this mobility is now lost due to medical complications). But I do not have a history in regards to the criteria for other regions of the body (e.g. elbows) tested by this system. Thus my Beighton score is actually quite low. Although I have a long history of frequent subluxation of multiple joints not covered by the Beighton examination.How important is the Beigton score in the assessment of EDS? Is it just one part of the diagnositc review or does a low Beighton score exclude the diagnosis of EDS regardless of other symptoms and family history. Thanks for your help View Answer		2008-01-02


	Is there a genetic test to diagnose the parents for Osteogenesis Imperfecta, to know if they are carrier or not??? View Answer		2007-11-29


	I suspect that my wife may have EDS. Please let me know where I may find a geneticist in my area. Thank you for your kind assistance. View Answer		2007-11-26


	My 16 yo. son family physician says he has alot of the symptoms of marfan syndrome and wants him to see a genetics. We took him and genetics said we had to have proof this was inheredited from a family member. His great grandfather died at age 47 with aorta rupture and my husbund was checked and said his aorta was dilated some but not yet bad enough for surgery. Should the genetics test him now. We have tried everyhting and our son does have chest pain regulary and this worries me. What should I do now. View Answer		2007-10-24


	Since my parents were first half cousins, I know that I am more likely to have recessive disorders.I have been told that I have Ehlers-Danlos (hypermobile type) with no testing available. Since finding that I have adrenal hyperplasia or adenomas, I was wondering if I should be typed for the Tenascin X deficiency type.Also just found that my double first cousin and her son have intermittent porphyria. Also some type of disorder runs the family that causes dementia beginning in the 60's and 70's. I have an appt. at Emory for thyroid ca followup on Sept. 5 and in Dec. with cardiology for mitral valve regurgitation. Another double first cousin, as I have, has been to Emory genetics (she has double scoliosis). Neither of us knew the other had been until recently. My podiatrist had sent me there (Ehlers-Danlos.) What test is available for the Tensacin X deficiency? View Answer		2007-08-24


	My husband and I lost a child in April when I was 18 wks pregnant. We have no sure answers why but were told it could be OI. Neither of us has a history in our families. My husband occassionally takes prednisone for ulcerative colitis and I wondered if there could be any correlation, since it may affect bones. I'm looking everywhere for help before we try again. Thank you. View Answer		2007-08-20


	I have been told that I sleep with my eyes open and I have been diagnosed with EDS hypermobility type three. Is it possible that I could have vascular type 4. The only family history I have any symptoms of EDS is my grandmother has cardiac problems as did her mom and my grandmother just had surgery for a AAA. My mom also had surgery for diverticulitis and was hospitalized. I scar easily. The stictches I had for a major cut did not close the wound all the way and it opened back up allowing something to get in the wound and cause recurrent cellulitis. after they did surgery to open the wound clean it out again and remove the fibroma it left an even worst scar this time and they used special plastic surgery stuff and the wound still came open again. what is the probability that i might have vascular instead of or in addition to heypermobility. also can an increase in high impact activity over long periods of time cause exacerbation of symptoms or early/rapid progression of the disease? View Answer		2007-07-15


	Hi. I am an individual with the Vasular type of Ehlers Danlos Syndrome. I have a few questions, 1. Is there a doctor that works with EDS patients regularly? 2. What is the best way to keep EDS in check? Please let me know whatever else info that you can give me. Thanks! View Answer		2007-07-10


	I have been studying a long history of symptoms in my family that seem to be related to Marfan's syndrome. We all have lanky build , long arm span, caved chest, joint laxity, respiratory problems. My grandmother exhibits heart problems, and I had MVP as a child. My brother is exhibiting glaucoma and eye problems. I am concerned about my 11 year old son's manifestation of symptoms, but don't know who to see in my area to receive a serious diagnosis and consideration. Can you help me find a knowledgeable doctor in my area of Arkansas ( Northwest corner)? Would genetic testing help? In our summer reading we have been studying Abraham Lincoln. Do you believe he had Marfan's? Thank you so much! View Answer		2007-07-10


	If my husband has EDS what are the chances of him passing it on to our children? View Answer		2007-06-23


	My family has Ehlers-Danlos syndrome vascular type. My Mother had it and 3 brothers 2 which have died from it. I myself has had no problems and have 4 children of my own. I am wondering if my children should be tested for the snydrome? I was never tested so I am 100% that I don't have the snydrome. Is it possible for my kids to pass this to their children if I have never shown the signs of the snydrome? My brothers did pass the snydrome to their sons not to their daughters. My mother passed it to her sons but not daughters, as far as we know. My brother had the biospy so we do know it was the vascular EDS. View Answer		2007-06-20


	My daughters fathers mother had 3 children with this disorder. She was Italian. My daughters father did not have this condition. My daughter is now 23 and wants children and I worry that she may pass on osteogenesis Imperfecta to her children. I recall a genetic counsellor reassuring me that unless she got together with a man of Italian desent it would not likely occur. View Answer		2007-06-12


	I just had a skin biopsy to test for Ehlers-Danlos syndrome. I have hypermobile joints (9 out of 9 on the scale), elastic skin that cuts & bruises easily and heals slowly, early onset osteoarthritis, TMJ, and a mitral valve prolapse. For years I have looked for separate answers to my joint pain issues (I have had knee problems since childhood, but I thought the shoulder pain was from a skiing accident, the hip pain was from bursitis, the jaw pain was from a car accident...etc.) However, EDS would explain everything. If the test is negative, is it still possible to have the disorder, or is the genetic test the defining diagnostic criterion? View Answer		2007-05-12


	My husband has several Marfan-like features such as severe myopia, pectus excavatum, acsending aortic enlargement and mitral valve prolapse (required surgery for acsending aortic anyeursm repair as well as prostetic aortic and mitral valve replacement), high palate, hyperflexiblity. Was told that he didn't have Marfan's because he didn't have retinal detachment. He has never had any genetic testing. My son who is now 20, has several features as well but no aortic enlargement, mitral valve prolapse or pectus excavatum. He does have hyperflexiblity, myopia, very tall, straiae and he is currently being evaluated for glaucoma. Would it be recommended to get genetic testing on both of them or not? or is their history sufficient to follow them as having the gene? View Answer		2007-05-07


	My geneticist just told my daughter that he believes my grandson has Ehlers-Danlos Disorder. Based on my symptoms, loose joints in shoulder, hip, and ankles, premature rupture of membranes during pregnancy (daughter born at 7 mos. she was 2 1/2 lbs, plus velvet type skin, etc.), he thinks I have EDS too.. I know it is a neurocristopathy. We have a very strong family history of neurofibromatosis (my brother, nephew, etc.) which I know also is a neurocristopathy. I know these two diseases have been linked together before in the medical literature. Is it possible that diseases of the neural crest can affect individuals in the same family a different way, i.e. my brother, NF, and myself, EDS?? Thanks for any info. you can give me. My dr. does not seem to have an answer for me. I hope you can help answer this. I have beeen trying to get to the bottom of this for many years. View Answer		2007-04-16


	my husband has oi iand it runs in his family. our 4 month old sons white of his eyes are quite blue could that be a sign he may have oi? View Answer		2007-04-01


	my son was diagnosed with possible ehlers-danlos vascular syndrome and marfan syndrome but they are not 100% sure as it dosnt fit all his symptoms like his severe learning difficulties and cleft lip and palate and split uvula wide set eyes.i belive he has loeys-dietz syndrome but nobody is interested in helping us. my son has the skin symptoms of ehlers danlos and thw thinness of marfans.im concerned for his health as he is getting older.im looking for anyone to help or advise me on how to get people interested in my sons condition. View Answer		2007-03-22


	I have Ehlers Danlos Type III and know that there is a 50% chance of passing this on to my offspring. However, is that a 50% chance of passing on Type III or 50% chance of passing on any level of EDS? View Answer		2007-03-13


	I am searching for help for my life partner. He is a 49-year-old male in a male/female relationship. The following is a list characteristics/problems that affect him. Tall, lean, long narrow face, high palate, crowded teeth, long arm/leg span, large hands, pectus excavatum, used to be very flexible but not so much now due to rheumatoid arthritis, stretch marks on low back, ascending and descending aortic dissection, aneurysms descending just past aortic arch and another in the abdomen, abnormal FBN1 and another defect in DNA that performing lab has never seen, sterile, abnormal parathyroid levels (hypo), visual disturbances, ringing in ears, head aches, tired, sleep apnea, dizziness, weakness in arms and legs, spontaneous fractures in both femurs-brittle bones, puffiness at back of skull-feels like fluid build up, and sensitive to hot and cold, thin skin. He was recently given the diagnosis of Marfans Syndrome but there are other problems/characteristics that he also has and I feel we may be missing something vital. Please help us determine what and where the next course of tests/treatments should be or looked into. View Answer		2007-03-01


	My grandmother had Marfans Syndrome and my grandfather did not have it. They had four children, three of whom have Marfans. My mother does not have it, and neither does my father. Is it possible for me to have MFS or to pass on the condition? View Answer		2007-02-03


	I have two brothers with OI. J is my full brother that has a mild case and my younger half brother has a severe case. We were told that our family is a strange unpredictable case. My father seems to be the carrier but does not have the disease. My questions is whether my children could have the disease, and if so were can I go to get tested? View Answer		2007-01-29


	Hi,I was diagnosed with Ehlers-Danlos Hypermobility type two years ago and my main symptoms at the time were joint laxity, joint pain and what seemed to be Irritable Bowel Syndrome. Since then my digestive symptoms have worsened and although they resemble an inflammatory bowel disease, all the tests are negative and they probably don't indicate IBS either, since they are extremely severe and IBS treatment doesn't help at all. I was wondering whether there is any known connection between EDS-Hypermobility and other digestive problems, apart from IBS? Or perhaps a connection between general tissue hypermobility - which affects the intestines, too - and digestive problems apart from IBS? View Answer		2007-01-18


	I have been told by a geneticist that I carry my mothers copy gene, who had Marfan Syndrome. Can you tell me what this means in a straightforward form? View Answer		2007-01-16


	Hello! I am doing a huge report on Osteogenisis Imperfecta and no matter where I look, I cant seem to find who discovered this disease and when it was discovered. View Answer		2007-01-11


	I was born with an inverted sternum, then as I grew up I had problems with my feet and had corrective surgery, needed to have braces because of my teeth because of over crowding, and found out also that I had scoliosis. When I was in high school they found that I had mitral valve prolapse. All these doctors kept asking me if i had marfan's syndrome. Till finally we had mention it to the family doctor and with looking back at my history he sent me to a geneticist. There she had taken my family history and did some physical tests. I'm tall and she noticed that my arms are longer in portion to my height. With my family history and my physical characteristics she had classified me as having presentations of marfans. She said that could change as I get older. But i'm confused do i have marfans? View Answer		2006-12-20


	hello, my 20 year old daughter has E.D.S type1. She has had a capsular shift operation on both shoulders, due to constant dislocations.Her shoulders are again very unstable, right has been dilocated for last 5 weeks, surgeon now wants to fuse both shoulders. Her ankle also dislocates all the time again we have been told to go for an ankle fusion. Do you think this is the best way forward, she is in so much pain.She has problems with fingers and hips dislocating, allthough to a lesser degree. Have read about prolotherepy would she benefit from this? Many Thanks View Answer		2006-12-12


	I have a son that is 21 months old and has had multiple broken bones(clavicle, arm and leg). I have seen a MD that told me I basically needed to wait and see what happened and that he was too young to diagnosis with OI. My son seems to have many symptoms associated with OI including easily bruising, very loose joints as in he is very flexible and able to dislocate his own joints(fingers), his teeth are discolored and have many chips and cracks. Getting an appointment with a geneticist is no easy feet and now I want to see another one and I want my son to be tested for OI what exactly would that entail? View Answer		2006-12-11


	I am 41 and have a diagnosis of Ehlers Danlos (Hypermobility Type with some signs of Classical). This diagnosis was made at Johns Hopkins 7 months following a heavy excessive lifting injury to the neck, back, and upper body extremeties, by which time I had become completely disabled at age 39 (from a state of good health and tight joints and consistent gentle physical activities: a lifetime of swimming, marching band year round, fast paced walking, and extremely good nutrition with supplements.I was told that "lifting the heavy object certainly would exacerbate and aggravate my underlying connective tissue disorder, Ehlers Danlos syndrome." QUESTION: Can you please provide me an explanation of HOW the heavy lifting exacerbated the EDS to the point that it took over my entire body joint by joint to the point of complete disability and the need for a wheel chair????Thank you. View Answer		2006-12-07


	Hi, I had to terminate a pregnancy in April of this year (2006) because the baby was found to have osteogenesis imperfecta type II. We have been given a recurrence risk of 5% - 7%. We were told this risk is because some of the eggs or sperm could be affected, i'm pregnant again now (with the same partner), how many cases are their of the type II being in the eggs or sperm. I had a previous pregnancy terminated for anacephaly, but no signs of OI. We're obviously worried, but i can't help thinking that it will happen again. View Answer		2006-12-06


	This last July I gave birt to a baby girl diagnosed with osteogenesis imperfecta type II, she passed away 15 hours after delivery. I just read that almost all infants with type II of the disorder have no family history what so ever because nobody has survived long enough to pass it on down through generations. My husband and I are now 13 weeks pregnant with our second, and I was wondering with neither of us having a family history of the disorder, what are the chances of another "genetic fluke", as the doctors would call it, happening again? Are they still as high as 50%? View Answer		2006-12-02


	My 10 year old daughter has eds, hypermobility type. She also has a mild case of scoliosis, 11 degrees , in the lower half of her spine. How are these two conditions related? Is it possible to prevent any further bending of the spine? What has made the spine bend? Her dream is to become a ballerina. View Answer		2006-11-29


	My aunt amd niece where recently diagnosed with Ehlers-Danlos syndrom, now my father say my childern and I should be tested. Do we need to be tested? If so how do I go about it. Could this be something they could carry but not have and could pass on the thier children. What bare the risks of this being a problem for them later on. View Answer		2006-11-22


	Hi my brother has ehlers danlos and i was wondering even though i don't have it could i be a carrier? If i was a carrier what does this mean to my unborn child?Could I be passing this sindrome onto my child even though i don't know whether i have it? Can i do a test and what does this test entale greatly appreciate your soon reply. View Answer		2006-11-13


	Both of my children have Ehlers-Danlos Classic type. My son is currently suffering from chronic migraine headaches with nausea and vomiting as well as disequilibrium. He has been seen by a neurologist who thinks he has Episodic Ataxia. Is there any connection between Ehlers-Danlos and Episodic Ataxia? His MRI is normal but no genetic test have been done yet to confirm the diagnosis. Thank you for any help that you can offer. View Answer		2006-11-03


	hello, i am a 32 year old female with mild type 4 oi, i also have two small childen with this same disorder .. one 3(male) and the other 7 (female) i have had problems with broker bones in eariler childhood ,but since puberity have seemed to have gotten better.. my only concern is that , when i sneeze i have extreme pain in my shoulder area i know this sounds funny , but it really has become a bother , i have loose joi9nts as to be expected but i have never read were this might be a side effect . i have had bone density test in the past which were in normal range , so my question to you is , is this oi related and if so what might i do to treat or prevent this problem View Answer		2006-11-03


	My eldest sister was born with type II osteogenesis imperfecta, and died shortly after birth. My 2 siblings and I do not have any form of the diesease. What are the chances that a child of mine would be born with this diesease? ( in any variation) I know that type II is most common a sporadic developement, but can't it also be from heredity? View Answer		2006-10-31


	I understand that the disease osteogenesis imperfecta results from the mutation in a gene expressing collagen of a glycine to an alanine residue, but I am having trouble understanding the consequences of this mutation. Can you please help explain? Thanks! View Answer		2006-10-28


	I just submitted a question with a typo i noticed on his lower body length it is 39.5" not 32.5" this is now corrected as follows. My son has been given a tenative diagnosis for marfen syndrome - we are just waiting for the echo and some blood tests back for total confirmation. My son was referred for testing due to his abrupt height increase and his positive physical characteristics. He is now 17 and 6'3" and growing weighs 156 Lbs. His arm span is almost 80" and lower body measures 39.5" . He can overlap his pinky with thumb around his wrist and his thumb across his palm extends past his pinky finger. He has a conclave sternum, flat feet (one foot has fused bone growth the other has one bone overlapping the top of the other causing problems. He has knee problems, juvenile rheumatoid arthritis and double jointed elbows. He has a stigmatism and although not recently tested has pigmentation spots floating in his retina area. He has congenital baby teeth and a thick brow area. He has had an unidentifiable bony growth removed at c4 c5 with rapid mitotic cell rate and one removed from his foot as well. Ironically, while there are a few tall people (i.e. 5'10" to 6'1) in the family most men are under 5'8" and women under 5'2". i myself tower at 5'5" and was born with a 6th lumbar, horseshoe kidney, double jointed elbows, submucous cleft palate, congenital baby teeth, copd, and heart murmur. His sister also has the baby teeth, conclave sternum, vsd, and hearing problems and is 5'2". Other family members have retinitis pigmentosa, enlarged heart (early death), wilmes tumor, dyslexia, but all affected are short, not tall. My question is if there is a condition that would result in marfen like syndrome where a majority of the family members are short and heavy set? Being the tallest woman in the family i am also one of the only ones who has not required breast reduction surgery or a forever diet at 5'5" and 120 lbs. If you can aid thank you. We have lost so many at a young age in our family (heart problems) and there are only three living males, two of which have had tumors (wilmes and my sons) and only one of which (my son) who may be able to have children as a result. View Answer		2006-10-06


	My 17 yr.old daughter is thought to have ehlers-danlos(both hips and both shoulders dislocate constantly-has trouble standing & ter. pain)I also have this, but have had numerous shoulder surg. to no avail.-shoulders dislocate every time i move my arms etc.My orth. surgeon has never heard of ed and says I have crappy collegen and tissue(his words), nothing more &that i should sit home and rest!I am trying to get diagnosed becasue we can afford for me to do that& need ssdi(I have work 32 years).My husbands self-insur. health insurance refuses to allow me to go to a genestist and says they do not consider ed a syndrome or disease. We don't have the money to go privately-i have not been able to work for 2 yrs. Are health ins. says they can and while drop me if i have a rare disease. How do i get diagnosed? Are there any clinical studies i can participate in? View Answer		2006-09-26


	can a woman with marfans have children? and if she can what can she do to make sure her children won't get it? Is there any tests that can be done? View Answer		2006-09-26


	Several of my family members have some symptoms related to Ehrlers Danlo -- my sister has hypermobility, easy bruising, and elastic skin. My mother has easy bruising and elastic skin. I have very transparent skin (I look like a Gray's Anatomy book...it's highly embarrassing) and elastic skin and perhaps some joint hypermobility, but not as much as my sister. We were tested by a geneticist at NIH and found not to have EDS. So what causes these symptoms? I particularly am worried about the vascular type since I have transparent skin. I am 47, successfully had 2 pregnancies, don't have mitral valve prolapse, have had a number of successful surgeries (some related to endometriosis), but I do have fibromyalgia. I have a first cousin with lupus and my mother is arthritic. Any info you can shed would be helpful. Thanks. View Answer		2006-09-03


	I have a son who was diagnose with O.I.. The doctor that diagnosed him, I can't locate him and he has not suffered a break since he was 10 weeks old. He is 5 now. The only things he has is blue tint of the eyes, chipping teeth, bruises easy, and he gets hot easy. He also has hearing loss but we can't determine if it is from the condition or something else. No blood work was every performed so I have no medical proof. I need to know. Who should I contact to get a hold of a doctor in my area or any where to diagnose him??? Thank you View Answer		2006-08-26


	my nephew is 16 and just found out he has marfan d. my son has the same singhs. could he have it? he is 15 and when he was born his feet are flat he had to ware a lift in his foot it hurt him and he was always falling down when playing sports. he plays sports now and is a good football player. his arm span is greater than his hight. he cant see without his contacts he had a very high cleft pallet and crowded teeth had to have dental work to corect it. View Answer		2006-07-30


	My husband is legally blind secondary to PXE diagnosed 18 yrs ago. He has congenital normal pressure hydrocephalus with ventricular/peritoneal shunt implantation 3 yrs ago and short term memory loss due to chronic compression of frontal brain lobes, Type II Diabetes, Metformin Urinary incontinence,Oxybutynin Depression, Celexa. Although the shunt is working properly, the recent brain ct shows that the brain ventricles have enlarged since last year. The neurosurgeon says that this is not likely as the ventricles are rigid from chronic nature of the condition.... so.... how is it that the radiologist claims they have enlarged yet again? Recent exacerbations of disorientation, memory loss, bizarre logic, weakness and fatigue accompanied by periodic loss of balance and episodes of urinary incontinence during acute "down" episodes resulted in the repeat of the ct scan. One week my husband can score well on MMSE, the next week, during a down turn, he says it is the year " two hundred and four "...... Question: What on earth is going on? Is it related to the progressive nature of the PXE? No brain lesions seen on ct, no evidence of stroke. Episodes of this nature are becoming more frequent and lasting longer than previously noted. What are the ramifications for a 56 year old with this condition? Does this scenario strike a chord with anyone who actually knows anything about this disorder? Is this "normal" as far as symptomatology is concerned? What might I expect to happen in the future in the way of symtpoms exhibited as a result of PXE? I feel like I am remiss if I just sit back and ignore what I perceive to be a worsening of his symptoms, but I cannot seem to find any answers. View Answer		2006-07-27


	I was recently told that my 17 year old son needs to have a DNA test to r/o Marfan's Syndrome. How is a DNA test performed? What are the steps involved? How long does it usually take to get the results back? And more importantly, where would I take him for the test, we live in Southeastern Arizona. View Answer		2006-07-26


	Can Marfan's syndrome be detected through aminocentesis? View Answer		2006-07-14


	I am 26 yrs. old and have recently found out I may have a form of EDS. I am getting ready to undergo shoulder surgery (thermal), to shorten the ligaments, to stop them from subluxing. Has this surgery been known to help with this condition, and do you have any advice on how to manage the pain associated with the hypermobile disorder? View Answer		2006-07-09


	My 17 y.o. daughter has just been diagnosed with Ehlers-Danlos, hypermobility type. She is an accomplished ballerina and had intended to pursue ballet in college and her career. She gets swollen knees and other stuff like that, but not nec. more often than other intense dancers, according to her teacher. Her chiropractor told her she would be severely injured if she continued. Any thoughts you have would be appreciated. View Answer		2006-06-15


	My aunt on my mother's side had a disorder called Marfan Syndrome. I was wondering how likely it is for our unborn child to have this syndrome. Do you think this warrents genetic testing? My aunt is the ONLY person in the family who had this syndrome. View Answer		2006-06-15


	My daughter was diagnosed with EDS in 1994. She is now 27 and pregnant. We are trying to determine exactly what type of EDS she has. She has met with a geneticist and several doctors at our local Children's hospital. However, they have not confirmed to her as yet exactly what type she has so we can be prepared for the baby. Can you tell me exactly what test is done to determine her type. They are advising her to get a blood test. A test determined she does not have any heart damage. She was born with dislocated hips. Please help us!!! View Answer		2006-06-15


	I am 33 and pregnant with my 2nd child and concerned about the risk of my children having either osteogenesis or dentinogenesis imperfecta. I believe that both my mother and I have undiagnosed dentinogenesis imperfecta (our teeth are very fragile - they crack and wear very easily). My mother (born 1944) is one of 6 girls and her immediately elder sister (born 1943) has osteogenesis imperfecta as does her second son (the third died in childbirth, apparently from multiple fractures). Is it possible to identify the risk of my children being affected by either syndrome? Also, my grandmother worked in a munitions factory during WW2 - is there any possibility of the syndrome being triggered by the chemicals she may have come into contact with as we are unaware/have no record of anyone else in the family being affected? View Answer		2006-06-11


	Hi there, I am living In brazil,but I am american. I have a 3.3 year old son that may have sticklers syndrome. I have been to two diffrent geneticits, and they say with out the DNA testing its sticklers. This test is not avalible here. He has some facial features and 3.5 myopia. I wanted to know can this syndrome have something to do with why he dose not talk? or why he has seizures? View Answer		2006-06-02


	My four year old niece on my husband's side of the family has Osteogenesis Imperfecta. After DNA testing confirmed the diagnosis, her father was tested, and it was discovered that he had a milder form of the disease (he had multiple broken bones as a child, including breaking his back). We also believe that her grandfather has the disease (also, multiple breaks over the years). This affected my husband's father, his brother, then his niece. My husband is not affected. We have a seven year old daughter who is not affected. My question is, what is the likelyhood that my daughter would be a carrier? Or, would one of her parents have to be affected? Should she undergo genetic counseling as an adult before planning for children? View Answer		2006-05-28


	I recently visited my Doctor and showed him some hypermobility I've had in my joints for some time, he diagnosed me with Ehlers-Danlos syndrome. After researching this syndrome, I've found that I most closely match the arthrochalasia type. The other types they describe just don't seem to explain why I am as flexible as I am. I am able to dislocate every, yes every joint including vertabrae. They show picture of people bending their fingers back at a 90 degree angle; however, I can bend each one back to touch my wrist. So my question is... Do I have Ehlers-Danlos syndrome arthrochalasia type? If so, I'd be happy to assist further research on this syndrome. View Answer		2006-05-19


	My son suffered from 11 fractures about a year ago, he was 3 months old at the time. He has several characteristics of OI but we have been unable to get him diagnosed. Recently we noticed a front tooth had some discoloration to it. The dentist has offered no explanation. About 2 wks ago the tooth started crumbling and breaking off, now he has another tooth doing the same thing. I am not sure what is happening or who to go to for help. We have taken him already to a genet. at Emory. What does this sound like to you? View Answer		2006-05-08


	My sister lost a child recently to type 2 osteogenisis imperfecta.I have read your in your websitre that this condition is not passed down through genes usually. She is already the mother of three wonderfull children and her new partner has encountered this problem twice before with a previos partner and has no history of this condition in his family. Do you think they may ever be able to have children toghether? And i wondered are there any tchniques or tips to prevent this happening in the future. View Answer		2006-05-06


	My doctor suspects Ehlers-danlos and suggests genetic testing/"other testing." I have hypermobile joints and a heart murmer. How important is it get the genetic testing if a clinical diagnosis has already been made? View Answer		2006-04-28


	What is the normal path of the fibrillin-1 gene? View Answer		2006-04-17


	I would like to know the best way to find out which type of EDS my family member has and where is the best closest place to find out . View Answer		2006-04-05


	My 27 year old son has OI Type V. I attended an OI Convention years ago and was told that he had gotten it due to a mutation. No one else in the family had the gene. However, that was when they only had 4 classifications of the disease and he was said to have OI Type 4. Since he has been reclassified, do my other sons now have a chance of having children with the disease. One of my sons wife is 8 months pregnant and they say the child is a very low weight. My other 2 grand children were healthy. View Answer		2006-03-30


	My husband presents with 100% of all the characteristics for Marfan Syndrome, but in a varying degrees. He does not present in the classic manifestations which are the typical and obvious of Marfans. As this is a connective tissue disorder originating from a Chromosome 15 defect, where would one be able to have a DNA test done specifically to test for Marfans? This is a defect that causes the dissection of the aortas and is not always detected by an ecocaridogram. As a result, most insurance companys will not approve and cover the cost for DNA testing to be done and not warranting an MRI as well, to look closer. Where can we have my husband tested genetically specifically for Marfans? View Answer		2006-03-29


	Can you explain the exact genetic information on Marfan syndrome? I under stand it occurs on chromosome 15, affecting fibrillin (i understand the uses of it as well) but what else ? Thank you View Answer		2006-03-27


	What is the life expectancy for a person with Stickler Syndrome? View Answer		2006-03-26


	I WAS TOLD MY SON HAS EHLERS DANLOS,ANY INFORMATION WOULD BE HELPFUL.HE HAS NOT HAD ANY GENETIC TESTING HOW CAN WE BE SURE?I WAS TOLD YEARS AGO,NOBODY TOLD ME THIS WAS SERIOUS,I DECIDED JUST TO LOOK IT UP NOW I AM VERY UPSET,I WAS TOLD IT WAS VASCULAR,AND BASICALLY IT MENT FLEXIBLE JOINTS AND HIS SKIN STRETCHES EASILY,NOTHING ELSE.NOW I READ THAT IT CAN BE MORE SERIOUS. PLEASE HELP. View Answer		2006-03-16


	i am a 16 year old girl. who recently had to do a project on genetic diseases. at first i thought it would be interesting to do ehlers-danlos syndrome, then i notcied a few coincidenses. then a few more. before i thought it was just the way i am with a clicking jaw and cat scratches turning in to red/purple scars, but now im starting to get a bit concerned. there is no knwon cure for EDS but i would like to find out if i do actually have EDS. View Answer		2006-03-14


	My father and one of my sisters have characteristics positive for marfans syndrome. Both have had heart surgery one fatal, one successful. Is there a possibility that my spondilosis and osteoarthritis are in any way related? View Answer		2006-03-09


	I have type IV Osteogenesis imperfecta and i have noticed i am loosing height and my shoe size is dropping could this be part of osteogenesis or something different entirely. View Answer		2006-03-05


	I will be 65 y/o in August of this year. Approx.40 years ago a doctor indicated that I was Marfan. He never followed up and I didn't either. I now suspect that I'm having symptoms of the disorder. I know I have a vascular disorder of some type. My heart does strange things (rapid beat, irregular beat,) sometimes it's kinda difficult to catch my breath and a problem with the veins in my left leg only. I know these all could be because of my age, but how can I find out if I am marfan or not. And if so, is that condition contributing to these complaints. My physical build is 5'8". At the time the doctor told me I was marfan, I weighed about 100 lbs. Now about 185. My teeth are crowded and I have a very high palate and long face. View Answer		2006-03-02


	I have been diagnosed with testicular microlithiasis and have recently read that there is an association with pseudoxanthoma elasticum. Could you tell me please is pseudoxanthoma elasticum only inherited or can the testicular microlithiasis cause pseudoxanthoma elasticum to develop. View Answer		2006-02-27


	My daughter was diagnosed with EDS hypermobile at the age of 12. she is now 21. NO WHERE in our family can we find anyone whom has ever had this. she has had several surgeries since she was 17 at shrine hosp in st louis missouri. one of which they broke her leg in 2 places and straightened it. as she gets older the pain is worse, skin wont hold sutures. My question is i suppose, how did i have a child with this and what are the chances of her child/children having EDS? she has a fear that when she decided to have children it will be passed on to them. She will graduate college in december. very intelligent a honor student, looks fine but lives in pain, low immune system and frequent dislocations. thanks, jackie View Answer		2006-02-20


	My oldest brother had Ehlers Danlos syndrome (and has since passed away at age 55). I have another brother who does not have the symptoms my oldest brother had (elastic skin, easily bruised, joint problems, etc.) and has never been diagnoses with EDS. However, he just found out that he has no "fat" between his skin and bone on heels of the feet (very painful) and there is no surgery, etc. to fix this. Does he have a form of Ehlers Danlos syndrome? View Answer		2006-02-20


	Bonjour, I'm diagnosed SED vascular type in France. I am 51 years old but I had never supported arterial rupture. Is it common in EDS type IV no having this problem of blood vessels ? Thank you for answering to me. View Answer		2006-02-19


	I believe my husband has osteo genesis imperfecta. I don't know if he was actually officially diagnosed, but he as had many breaks, and fractures throughout his life. His brother as well, and there father. Recently his brothers son was diagonsed with type 1.OI I have 2 boys that have the blue scalera. (they all have the blue scalera) Is it possible to inherit the blue scalera and not actually get OI? Also my 22 month son just broke his collar bone, does that now mean that I should get them tested, as I have not had reason before. Also, is there anything I can do to help strengthen their bones? This is all SO new to me, and I have so many questions. One other question I have is is it more dominant in men? I noticed a pattern with the men in his family. His brother has twin girls that do not have it, but his son does. Should I see an ear dr? Or an eye Dr? As well as a geneticist? Can they lose their hering permanently? I know that OI affects all of these areas so that why I was wondering if I need to see all of thoes dr's? View Answer		2006-02-19


	I am a 32 year old mother of three. I was recently diagnosed with joint hypermobility. My 12 year old and 2 year old are showing the same signs I did years ago, walking funny,locking knees and ankles, pain. Is this hereditary, and if so, did I give it to them? Did I get it from one of my parents? What should I do to find out if they have it? View Answer		2006-02-07


	Where can I find information on the discovery of osteogenesis imperfecta? I need to fing who discovered it and who named? View Answer		2006-01-31


	Good afternoon. My daughter has Stickler Syndrome and last year she had a retinal detachmet and had surgery but unfortunelly she lost her vision on the right eye. Because of that the specialist recommended surgery to prevent that to happen on the other eye. She was fine after both surgeries but know she is having diffuculties to see. some days she sees fine but others she does not. She is goingto see the optomestrist tomorrow but my question is if there is any risk for my daughter to lose her vision. We just want to have a second opinion. Thank you. View Answer		2006-01-30


	im doing a major project in my biology class on stickler sydrome and i have a couple of Quistions i cant seem to find. One of them are can you catch the disorder and is their a cure for it also are people born with it and how do you know if you got the disorder or your children have the disorder? View Answer		2006-01-24


	I have Arnold Chiari malformation I, as does one of my, confirmed, 4 children. I also have Ehlers Danlos Syndrome,as i suspect 3 of my 4 children having. HOW important is testing with regard to EDS, and is the technique skin biopsy? View Answer		2005-09-17


	I am 23 years old girl have a marfan syndrome, i am asking if the pgd test is completlt effective, and how mush this tests cost, i am realy concern that whats on me stays on me, i don't want my chilren to suffer like me, i am asking also about ectopia lentis surgery if u could help me on that tooo, i will be so gratful. View Answer		2005-09-14


	I have ehlers-danlos syndrome (EDS) and I am now being tested for amyotrophic lateral sclerosis (ALS). Could these two be related? View Answer		2005-09-14


	I would like to know about the genetics of osteogenesis imperfecta? I know that sometimes it is just luck of the draw, but I would like to know what factors decide if a person gets it and how come it skips generations and shows back up again, especially if it disappears that the gene is dominant? If you can\?t answer this, just let me know. I also know just some of the basic things about genetics. View Answer		2005-09-14


	My DNA testing shows Marfan syndrome and Ehlers Danlos. Is it common to have both these diseases? View Answer		2005-09-14


	My Fiance has Marfan Syndrom. We would like to have kids and have done lots of research. Over the past few years it has become increasingly common to have in-vitro and to do preimplantation genetic testing. What are your thoughts on this? Is it safe and effective? What else can be screened besides Marfans? View Answer		2005-09-14


	My general practitioner believes I have Ehlers-Danlos Hypermobility Type as I fit all requirements except the hyperelastic skin (which can be absent or very mild I am told. My skin is very sensitive and I do get a lot of "fingertip" size bruises and my scars are slightly widened (my brothers are HUGE like about 2+cm wide on his chest). I sublux and dislocate frequently, but when I see the geneticists here (I have seen 2) I have been told either I am NOT hypermobile because my joints don't FLOP (unassisted) back 180 degrees (i.e back of hand "flop" back against forearm), or I am told that because my skin isn't abnormal ENOUGH I can't have EDS and must instead have a "genetic hereditary connective tissue collagen hypermobility disorder". How can I go about finding out for certain if I have EDS-H or EDS at all? View Answer		2005-09-14


	My husband has Marfan Syndrome. His sister just had a successful valve-sparing sugery and my husband (41) will have his now even though his root is not 5.0. My question is how does the genetic community view the decision to have a family while carrying an inheritable disorder that can be medically managed? View Answer		2005-09-14

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