Ear Abnormalities & Hearing Loss | Ask the Geneticist (SM)

Q&A about disorders characterized by defects in the formation of the outer ear and hearing loss that are influenced in whole or part by genetic factors. Examples include Pendred syndrome and conductive, sensorineural, and mixed hearing loss.

Other information about hearing loss:

American Speech-Language Hearing Association

http://www.asha.org/public/hearing/disorders/

- The Centers for Disease Control and Prevention (CDC)

http://www.cdc.gov/ncbddd/dd/ddhi.htm

Subtopics

Cupped ears (1) Ear abnormalities (1) Ear lobes (3) Hearing Loss (10) Miscellaneous/Unclear Diagnosis (4) Pendred syndrome (7) No Sub-topic (7) Showing 33 questions

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


	Question		Date



	There are currently 13 living members of my family, myself, two sons, mother and brother included, who have small, bilateral cup shaped ears. My Great Great Grandmother had 13 children, one of them had these ears, and there has been quite a few of us since then. Our ears are cute, and even though they are not "normal", the shape is basically the same person to person. I have searched the internet for pictures of ear deformities, but have never found anything remotely similar. Any doctors we have been to are amazed, but I've never looked into it. I don't really have a question ABOUT them, I was just wondering if you had heard of a genetic ear deformity like ours. If you would like a picture I could send one of the three of us. Thank you so much, Nancy View Answer		2010-01-10


	Hello: I was wondering if you could tell me what genetic disorders are associated with creased earlobes. I've always thought my friend has some sort of genetic mutation as he has many traits which might suggest this. He and all of his siblings have creased earlobes even though they're young. He has puffy lower eyelids and almost looks like he might have a mild case of Down's syndrome, but not quite. He's not mentally retarded but he has some learning disabilities like dyslexia. He had to wear leg braces when he was younger, and in fact, all of his siblings have had orthodpedic issues and have congenital kidney issues. He also an unusually small mouth and dental abdnormalities View Answer		2009-12-05


	my daughter was diagnosed with a severe to moderat hearing loss at nation wide childrens hoshital and me as her mothere and father have had genetic testing there and we went to cincnnaty childrens to get a second oppenion on her hearing and the test has came back the same and cincnnaty childrens has called me and want to test her for usher syndrum the testing has not been done yet and i want to no y this was no this was not brought up at nation wide chilrens hospitle when they r the ones who have all of her medical records cause she was in the nic-u there for 18 days if u please contack me as soon as posibble cause i wonld really like some answers i am just so lost and i really want to no what my dangher furture is for her and what she has to face in life....thank you View Answer		2009-08-01


	my niece has lvas and is severely deaf in her left ear. My 16 yr old son has in the last few years been experiencing progressive hearing loss in his left ear, accompanied with pain whenever he swims (he is a competitive swimmer) and the ENT had no explanation, though he did not do an mri or anything. Is it possible to have hearing loss due to lvas onset in adolescence? View Answer		2009-07-24


	hi.my question is that my friend is married to a boy whose both parents are normal.but two sis and one brothr have isolated deafness.while 1 sis and 1 bro.are fine.the boy himdelf is also normal.but there is history of deafness on both maternalande paternal side.whether its autosomal or x linked isnot known..i want to ask that what are the chances that my friend may have aq baqby with deafness. View Answer		2009-06-22


	My daughter was born with bilateral mild-moderate sensorineural hearing loss. I worry that it may be Usher Syndrome. When is the earliest that an opthamologist may see signs of retinitis pigmentosa, and how is it tested early on? Also, my daughter has some 'enamel dysplasia', which I read can be linked to Usher. Is enamel dysplasia seen in the primary teeth of those with Usher? Thank you. View Answer		2009-06-17


	I have a 35 year old daughter who has had hearing loss --probably since birth. around 5, when we were to move to another state, she completely lost her hearing. Eventually, she was sent to the House Institute in Los Angeles. They shunted her right ear (she had a hugh endolymphatic sac, filled with fluid and touching on her brain). From that time, the hearing fluctuation stopped in her left ear but she has not hearing in her right. Several years ago, my daughter, her husband, her dad and i went to NIH and were seen by experts on Pendred Syndrome. We were told that a shunt would not be the treatment nowadays, nor meds like prednisone. It seems that stress plays a part in her bouts of total non-hearing. Also at those times, she has "noises" in her head . She has been without hearing for 4 weeks . Is there any new research going on or new treatments? Should the 30-year old shunt be looked at via CT scan or PET scan or some other way? View Answer		2009-01-24


	I have a 5 year old child with eva or lvas depending on who you talk to but just differnt ways to say all the same thing. I been told that it is genetic. But all the genetic testing has come back normal. My 20 year old son called today and his girlfreind is going to have a baby. Is there any chance this baby could be deaf. I have 5 children and only 1 child with a hearing loss. View Answer		2008-12-15


	I suddenly lost the hearing in my left ear,before i lost the hearing i had bleeding from the left ear and ringing,went to the ear doctor in my town and he praformed a series of tests oin my ears right ear is great left ear is completely gone the hearing,he calls it a dead ear,i told him it still rings ,he says he could not tell me what caused it, he did an mri it came back normal,he told me the hearing in my left ear will never return,could you tell me what it could be?? he also told me a hearing aid will not help, is there anything out there that can help maybe??if so tell me,because the constant ringing in my left ear is mortally driving me crazy i am starting to get headaches from it. View Answer		2008-11-18


	I am a Teacher of the Deaf/Hard of Hearing. One of my kindergarten students was recently diagnosed with Pendred Syndrome. She rocks her body back and forth or bobs her head up and down throughout the school day. Could this be related to the syndrome? View Answer		2008-11-12


	my husband is a carrier of the 35delg mutation (connexin 26) and we discovered that also the fetus has this 35delG mutation. We're told that the baby is probably a carrier but this is not sure, and there is a 1/200 probability he will be affected. Is it correct? For the moment the baby has been investigated only for 35delG and 4 other main mutations of cx26, but I understand that there are other analysis that could investigate better the cx26 (sequencing of the full area) and cx30 (sequencing of the entire area) too, to further reduce the 1/200 risk. Can you confirm this 1/200 initial risk? Can you tell us what the risk could be by sequencing also the entire cx26 and cx30. thanks View Answer		2008-11-10


	My daughter was tested as newborn for hearing loss at 4000 Hz indicating a mild loss due to fluid. F/u testing at 6 months indicated mild - moderate loss due to fluid. At 15 months she was severely deaf (mixed loss), except high frequency (moderate). Physical exam: NAD. Dvpmt apart from speech delay: normal. Did not walk until nearly 18 months - appeared to lack balance & has mild left hip dysplasia. Has a completely unrelated & benign eye condition: Persistent Pupillary Membrane Remnants. Ix of deafness: RFT, TFT, Connexin 26 & CT scan NAD. CMV & Rubella unlikely. My Hx: thyrotoxicosis (?Grave's disease, not sure antibodies were present). After trtmt, 7 yrs of normal TFTs, but now have an undetectable TSH level with normal T4 and T3 at top end of the normal range, c/w thyroid autonomy. I have no symptoms of hyperthyroidism currently. I was wondering if, with this history, it is worth pursuing investigation of other syndromes associated with thryoid problems. View Answer		2008-11-04


	My 9 month old daughter has been diagnosed with profound hearing loss in her left ear and mild hearing loss in her right. Hearing loss doesnt run in either side of our family. She was tested for the genetic gene and it came back negative. Should I see a geneticist for further testing to see if we can find an underlying cause? any suggestions or ideas would be greatful. thank you for your time View Answer		2008-10-24


	is it possible to have pendreds syndrome if a child is born with congenital hypothyroidism which is sublingual and with a mild to moderate sensorineural hearing loss View Answer		2008-10-04


	I have just finished reading the factual information on autosomal dominant deafness. I am a 45 year old woman who was born totally (profoundly) deaf in my right ear. My mother is totally deaf in her left ear. My grandmother (her mother) was also deaf in one ear although few people realised it in days where medical diagnosis had not advanced as much as today. I have a brother and a sister who have normal hearing in both ears. Is there any way I can have tests to determine what the gene causing the hearing loss is? Are there any advancements we can hope for in providing hearing in the deaf ear? View Answer		2008-09-18


	My partner has Pendred's syndrome. If we had children what is the chance of the child having the syndrome? Should I get tested for the defect gene? View Answer		2008-07-30


	Hi, my son was diagnosed with polymicrogyria through an MRI, at age 8 mnths , I have recently been diagnosed with retinitis pigmentosa as well as living with decreased hearing for a number of years . I now want to be tested for usher syndrome, as they are wanting to test my child. Would it be outlandish to think that these abnormalities are linked in some way. View Answer		2008-07-18


	With nonsyndromic deafness is there a particular group of people who are more likely to inherit this genetic disorder? View Answer		2008-05-02


	Both my sister and I were diagnosed with a sensineuroal hearing loss in our 20s. We are now in our 40s and our hearing loss has advanced to severe. When were were first diagnosed we were sent for genetic counsling and were told that our condition was most likely caused by genetics, but that was all. We both started premature greying at about 16 years old and we both have bright blue eyes. After reading about Waardenburg Syndrome, it occurred to me that this we may possibly have this syndrome. Is it worth going for further genetic counseling? What are the changes of this being passed on to our children? View Answer		2008-02-20


	My family has a hereditary hearing disability that i would like to know more about, but am unsure of how it is inherited. i know that it is dominant, but not sure if it is x-linked or autosomal. HL is hearing loss, F is female, M is male- Gen1: HL F and normal M have 6 children, F1 (HL), F2 (HL), F3 (norm), F4 (HL), F5 (HL), and M2 (HL). Gen2 all partnered with normal hearing: F1 produced F6 (HL), F7 (norm) and F8 (HL). F2 produced F9 (HL), M3 (HL), F10 (HL). F3 has F11 (norm) and F12 (norm). F4 has M4 (HL) and M5 (HL). F5 has F13 (norm) and M6 (HL). in Gen3, F7 has 3 normal hearing females. F9 has one HL male and one norm female. F10 has 2 HL males. All males have been HL, which makes me believe it is X-linked. However, none have had children, is it possible that it is autosomal, and just unlucky that all males have it? View Answer		2007-12-30


	I understand that earlobe shape is genetic. I have one lobed ear and one attached. How does this come about? View Answer		2007-11-27


	I have a 5 yrs old son with a progressive hearing loss (was born with normal hearing)(now is severe to profound) and 2 yrs daughther with a profund hearing loss. Both with bilateral. Apparantly genetics. Only tested conexin 26, and result was negative. Here in Argentina we dont have more genetic exams. Are there more studies? Where can we do the exams? We dont have any other relative with hearing problems. View Answer		2007-10-26


	Both my children have hearing loss. My son now 16 was born profoundly deaf my daughter now 14 was born with a mild loss but has lost her hearing over the years now she is profoundly deaf. We have been told that this is because of Pendred Syndrome both also have LVAS. My daughter has recently been diagonised with Goitor, and has been put on Thyroxine 75mg (started off on 50mg) is this the correct course of action or not I am so worried as this is something she will have to take for the rest of her life!!!!! View Answer		2007-10-17


	Two of my three children have skin tags on one or both of their ears. My husband had similar tags on one ear when he was born. I assume this is a genetic abnormality. Is there a specific gene associated with this condition? Are my husband and I both carriers of this gene? What are the chances that my children will pass this on to their children? View Answer		2007-08-22


	My 4 year old son is hearing impaired. He was diagnosed with a bi-lateral sensorineural hearing loss from birth. He also has enlarged vestibular aqueducts and clinodactyly in both pinky fingers. Is their any relationship between hearing loss and curved pinky fingers? View Answer		2007-06-08


	Hi, I am curious to know, what, if any, are the chances of myself and furture husband having a child with a hearing loss? My fiance is profoundly Deaf, has been since birth. He has a profound sensorineural hearing loss in both ears. His mum also has a moderate high frequency sensorineural loss in both. He doesn't know his father but doesn't believe he had a hearing impairment. His half sister has a mild/moderate high frequency loss, (same mother, different father) I have normal hearing and so does all my family. Thank you. View Answer		2007-03-28


	Hello, I am a nurse, and in a relationship with a man (not deaf) who has nonsyndromic deafness in his family. I am interested in finding out information. After looking at a few websites, his case does not seem to fit easily into any of the noted types (from my limited knowledge of human genetics). I will give you an outline of the deafness in the family, in hopes that this will give the information you need to trace it. his father: born deaf, paternal grandparents: both hearing; his mother: became deaf after meningitis (parents hearing); father's 2 sisters: one deaf, one hearing; mother's sister and brother: both hearing; my SO's brother: deaf (lost hearing progressively as baby); his wife: deaf after meningitis (her parents: hearing); their 2 sons: one hearing, one profoundly deaf at 2 years. This is all the info that I have and I appreciate anything you can tell me re: the genetics and chance of my SO and I having deaf children. Thanks you. View Answer		2006-11-17


	My daughter has recently been diagnosed with Pendred's syndrome - she has Mondini malformation and dilated vestibular aqueducts associated with the Pendred's. We did not know about this syndrome before the diagnosis and have not seen the geneticist since she was diagnosed. I have read conflicting reports that the hearing loss with Pendred's is progressive. She wears aids at the moment and the hearing loss is stable. Should I expect it to become worse? View Answer		2006-07-09


	My daughter was diagnosed with Pendred syndrome age 9 after an MRI before she underwent cochlea implantation. I was told to expect possible goitre in adolescence, she is now showing signs of a small goitre, aged 12. However, her thyroid functions are normal. I have always been told by doctors not to worry as goitre can be treated with medication but if her thyroid is functioning normal, how can the goitre be treated? I am obviously very concerned about further growth of the goitre and wonder if there is anything I can do to help? Thanks View Answer		2006-04-28


	What is the likelihood that I will bear a child who is deaf? My mother was not born deaf, she became deaf after a bout with measles in her early life. My father, and 6 out of 10 of his siblings, was born deaf. My husband has no deafness in his family. Any information you could provide would be greatly appreciated. Thanks for your time. View Answer		2006-01-31


	The expectant mother has grade 2 microtia, what is the possibility that the child will have microtia? Is microtia hereditary? View Answer		2005-11-20


	My husband and I recently gave birth to a baby daughter. Neither of us have ear lobes, yet our little girl has ear lobes. Is there an explanation for this? View Answer		2005-09-14


	When I was in biology class in college, we were studying genetics. As part of an experiment, we focused on earlobes for dominant gene traits. We learned that a person can have either attached or free-hanging depending on your genetic make-up. My question for you is this.....I have both types of ear lobes. My right ear lobe is attached and my left ear lobe is free-hanging. Can you explain this? I asked my professor and he said that it wasn't really genetically possible and he had no idea how to explain it. If you have any information on this, I would appreciate any help since I am very interested as well as perplexed! View Answer		2005-09-14

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