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International Birth Defects Information Systems
Deaf - Deafblind - Anotia

International Birth Defects Information Systems

Deaf - Deafness Related
Deafblind - Anotia

Topics: | Aural Atresia | Ear anomalies | Hearing Impairment | Microtia |

Related Topics : | CMV | Craniofacial | Craniosynostosis | Crouzon | Facial Clefts | Goldenhar Hemifacial Microsomia | Pendred | Pierre Robin | Treacher Collins | Velo Cardio Facial |

Service Related: | Support Groups | Professional Associations | Key Information Sources |

Languages: | English | Spanish | Ukrainian |

Ten Syndromes Most Commonly Associated with Hearing Impairment ( Boys Town National Research Hospital )
Visitor Comments [for Professionals mainly] [Support Groups] [Illustrated]"... for general public ... Great website ... for Hereditary Hearing Loss ..."
Syndromic hearing loss - that is, hearing loss in association with other congenital or genetic abnormalities, is a frequent occurrence ... Top 10 list ... 10 most common syndromes with that have hearing loss would include: 1. Hemifacial microsomia, 2. Stickler syndrome, 3. Congenital cytomegalo virus (CMV), 4. Usher syndrome, 5. Branchio-oto-renal syndrome, 6. Pendred syndrome, 7. CHARGE Association, 8. Neurofibromatosis type II, 9. Mitochondrial disorders, 10. Waardenburg syndrome ... 1) Oculo-Auriculo-Vertebrali (OAV) Spectrum (Hemifacial Microsomia, Goldenhar syndrome) ... Common features: ... Facial asymmetry of varying degrees, ocular findings (including anophthalmia and microphthalmia, and epibulbar dermoids), auricular abnormalities ... 50% of patients ... Have a conductive and /or sensorineural hearing loss ... 2) Stickler Syndrome (Marshall-Stickler Syndrome, Hereditary Arthro-ophthalmopathy)... Clinical stigmata ... Include flattening of the facial profile, cleft of the palate, ocular changes (myopia/retinal detachment/cataracts), and arthropathy ... Hearing loss due to eustacian tube dysfunction secondary to palatal anomalies ... 3) Congenital Cytomegalo Virus (CMV) ... Features include hepatosplenomegaly, thrombocytopenia, jaundice, hemolytic anemia ... Microcephaly, intrauterine growth retardation, cerebral calcifications ... Hearing loss is sensorineural and may be progressive ... 4) Usher Syndrome ... Is the most common eye/ear disorder with a reported prevalence of 3.5 per 10,000 ... Conversely, 10% of patients with retinitis pigmentosa will have a significant hearing loss ... Retinitis pigmentosa, sensorineural hearing loss ... Type I, congenital ... Type II, congenital, moderate ot severe; Type III, progressive ... Not every patient who has the combination of retinitis pigmentosa and sensorineural hearing loss has Usher syndrome ... 5) Branchio-Oto-Renal Syndrome (BOR) ... Prevalence 1 per 40,000 ... Features: ... Including branchial clefts, fistulas, and cysts. Otologic changes include malformation of pinnae and preauricular pits of the sinuses ... Renal anomalies are markedly varied ... 75% of patients with BOR will have a significant hearing loss ... Conductive (30%), sensorineural (20%), and mixed (50%) ... 6) Pendred Syndrome ... Estimated that 5% of all children with congenital hearing loss may have Pendred syndrome ... Cardinal features ... are a thyroid goiter and profound congenital sensorineural hearing loss ... Hlaf-hypothyroid, half-euthyroid ... On rare occasions, the hearing loss is reported to be only minimal ... Also be progressive in childhood ... Incidence of progression in 15% to 20% ... 7) Charge Association ... Major features account for the acronym CHARGE with C for cloboma, H for heart, A for atresia choanae, R for retarded growth and development, and E for ear anomaly/deafness. Hearing Loss: Universally reported as mixed and occurs in 80% to 85% ... 8) Neurofibromatosis Type II ... Features: Vestibular schwannomas with secondary hearing loss, and other intracranial tumors ... Hearing loss is present in 45% of patients ... Loss is unilateral in 75% ... 9) Mitochondrial Disorders... Can produce either an isolated hearing loss, or hearing loss associated with other features ... Lactic acidosis, encephalopathy, myopathy, seizure disorder, ophthalmoplegia, diabetes mellitus, cardiomyopathy/cardiac conduction defects, stroke like episodes, ataxia, and optic atrophy ... A maternal inheritance pattern should clearly be considered for mitochondrial etiology ... 10) Waardenburg Syndrome ... 1 per 4,000 live births ... At least two types of Waardenburg syndrome ... Distinguishing type I and type II is the presence or absence of dystopia canthorum ... Findings include hypertelorism, synophrys, high nasal bridge, and hypoplastic alae nasi ... Also multiple pigmentary abnormalities which include hypo pigmentation of the fundi, a white forelock, partial albinism, early greying, and blue irides ... Type I: 20%; Type II: 50%. Hearing loss may be unilateral or bilateral ... It is sensorineural ...

Hereditary Hearing Loss & Deafness Overview
GE Green, MD, PhD, GENE Clinics, January 30, 2007
Visitor Comments [for Professionals mainly]"... excellent, comprehensive source ... for general public, medical students, and professionals."
Several hundred genes are known to cause hereditary hearing loss and deafness. The hearing loss may be conductive, sensorineural, or mixed; syndromic or non-syndromic; and pre lingual (before language develops) or post lingual (after language develops) ... DNA based testing are available for the diagnosis of branchiootorenal (BOR) syndrome (EYA1 gene), Pendred syndrome (PDS gene), dilated vestibular aqueduct syndrome (PDS gene), DFNB1 (GJB2 gene), and DFNB4 (PDS gene). Testing for deafness causing mutations in the GJB2 gene (connexin 26) plays a prominent role in diagnosis and genetic counseling ...

Victor A. McKusick, OMIM, Johns Hopkins University, March 18, 2004
Visitor Comments [for Professionals mainly]
Microtia anotia (M A) can occur either as an isolated defect or in association with other defects ... in a minority of cases has a genetic or environmental cause been found ... usually part of a specific pattern of multiple congenital anomalies ... is an essential component of isotretinoin embryopathy ... prenatal alcohol syndrome ... Goldenhar syndrome ... Mastroiacovo et al. (1995) studied the epidemiology and genetics of microtia-anotia from the Italian Multicenter Birth Defects Registry from 1983 to 1992. Among 1,173,794 births, they identified 172 with M-A, a rate of 1.46/10,000; 38 of the 172 infants (22.1%) had anotia ... 66.2% had an isolated defect, 48 (27.9%) were multimalformed infants ... The frequency of bilateral defects among nonsyndromic cases was 12% compared to 50% of syndromic cases ... only holoprosencephaly was preferentially associated with M-A ... Mothers with parity 1 had a higher risk ... Mothers with insulin-dependent diabetes were at significantly higher risk for having a child with M-A. Mastroiacovo et al. (1995) suggested autosomal dominant inheritance with variable expression and incomplete penetrance 'in a proportion of cases,' or multifactorial etiology ... Gupta and Patton (1995) described a large kindred with autosomal dominant inheritance ...

Victor A. McKusick, OMIM, Johns Hopkins University, March 19, 2004
Visitor Comments [for Professionals mainly]
Ellwood et al. (1968) reported 2 sibships: the first, with first-cousin parents, included a brother and sister with bilateral anotia and meatal atresia; the other included 2 brothers, one with unilateral microtia and bilateral meatal atresia and the other with unilateral microtia and meatal atresia ... Guizar-Vazquez et al. (1978) described a mother with microtia and meatal atresia on the right, whose son had the same combination on the left. Both had some macrostomia and facial asymmetry, but features of Goldenhar syndrome (164210) and Treacher Collins syndrome (154500) were missing ...

Victor A. McKusick, OMIM, Johns Hopkins University, March 18, 2004
Visitor Comments [for Professionals mainly]
Hefter and Ganz (1969) described this combination in a woman and 3 of her 4 children ... Robinow and Jahrsdoerfer (1979) observed an extensively affected kindred with several instances of male-to-male transmission. Stenosis rather than atresia of the auditory canal was present in some ...

DFNB1 - Autosomal Recessive Non-Syndromic Hearing Loss
RJH Smith, MD., GENE Clinics, December 21, 2005
Visitor Comments "Excellent and comprehensive source"
DFNB1 is characterized by congenital, non-progressive mild-to-profound sensorineural hearing impairment. No other associated medical findings exists … Recognized disease-causing mutations in the GJB2 gene (chromosomal locus 13q11-12) altering the protein connexin 26 (Cx26) …

DFNA3 - Autosomal Dominant Non-Syndromic Hearing Loss
RJH Smith, MD., GENE Clinics, December 29, 2005
Visitor Comments "Excellent and comprehensive source"
Characterized by childhood onset, progressive, moderate-to-severe high frequency sensorineural hearing impairment. No other associated medical findings exist ... Diagnosis depends upon the DNA based detection of a recognized disease causing mutation in the GJB2 gene (chromosomal locus 13q11-q12) altering the protein connexin 26 (Cx26) ... DFNA3 is an autosomal dominant disorder. Offspring of an affected individual have a 50%  chance of inheriting the gene. Prenatal testing is available ...

DeafBlind International
DbI, 2007
Visitor Comments "Good source to look for help and guidance ... development of services to enable a good quality of life for deafblind people."
The world association promoting services for deafblind people.

U.S.A. Organizations for Deafblind People
Visitor Comments "This website is amazing ... Great for ... patients seeking support."
Alabama Institute for Deaf & Blind (AIDB), Alaska Center for Blind and Deaf Adults, American Association of the Deaf-Blind (AADB), Arizona Deafblind Project ...

Serious Hearing Impairment Among Children Aged 3-10 Years
MMWR 46(45); 1073-1076, CDC, November 14, 1997
Visitor Comments [for Professionals mainly]
Hearing impairment without appropriate intervention among young children can delay the acquisition of speech and language skills that, in turn, can result in learning and other problems at school age ... One of the national health objectives for the year 2000 is to reduce the average age at which children with serious hearing impairment are identified to no more than 12 months ... Approximately two thirds of the children had a sensorineural hearing loss that did not result from a postnatal cause and was presumed to be present at birth ... The mean age at earliest known diagnosis was 2.9 years ... Joint Committee on Infant Hearing recommended audiologic screening for infants with one or more specified risk factors (e.g., a brithweight less than 3 lbs 5 oz {less than 1500 g}, bacterial meningitis, and anatomic malformations of the ear) for hearing loss ... Present in only 50% of all children among whom substantial hearing impairment is eventually diagnosed ...

Newborn and Infant Hearing Loss: Detection and Intervention (RE9846)
American Academy of Pediatrics, PEDIATRICS Vol. 103 No. 2 February 1999, pp. 527-530
Visitor Comments [for Professionals mainly] "Good ... reliable."
This statement endorses the implementation of universal newborn hearing screening ...

CDC Centers for Disease Control & Prevention
CDC, National Center on Birth Defects and Developmental Disabilities, October 29, 2004
Genetics of Congenital Hearing Impairment ... Abstracts ... Genetic Testing for Hearing Impairment- Are we ready? ... The Landscape of Early Hearing Detection in the United States ...

Ears & Kidneys: What's the Connection ( Boys Town National Research Hospital )
Visitor Comments "... website for professionals."
A number of genetic and non genetic disorders that affect both ears and kidneys ... The kidneys and the cochlea of the inner ear have some very similar membranes which are held together with a substance called collagen ... Charcot-Marie-Tooth disease and deafness. This is an autosomal dominant ... A progressive nerve disease which causes gradual decrease of muscle function in legs. The hearing loss is sensorineural and usually is noted in adolescence ... Epstein syndrome (Macrothrombocytopathia, nephritis, and deafness). This is  An autosomal dominant syndrome that is very much like Alport syndrome ... Muckle-Wells syndrome (urticaria, deafness, and amyloidosis) ... Renal tubular acidosis and hearing loss. This is an autosomal recessive condition ... Townes-Brock syndrome. This autosomal dominant condition can be quite variable within families. The characteristics include lack of an opening for the anus which must be repaired at birth, abnormal bones of the hands or feet, kidney problems (usually small, poorly formed kidneys), "lop" shaped ears, and mild sensorineural hearing loss ... Oto-renal-genital syndrome. This is a rare recessive condition involving abnormal middle ear ossicles, abnormalities of the reproductive organs ...

Genetic Studies of Non-Syndromic Deafness
Kathleen Arnos, al., Gallaudet Research Institute (GRI)
Visitor Comments "... brief but interesting ... for all audiences."
Researchers at the Medical College of Virginia (MCV) and Gallaudet University have been awarded grant funding ... More than 400 types of hereditary deafness have been identified in deaf an hard of hearing people ... One specific gene has been identified that appears to be the cause of hearing loss in many people. It is known as the CONNEXIN 26 gene ...

American Tinnitus Association
American Tinnitus Association, 2007
Visitor Comments "Good source ... "
Non-profit organization dedicated to promoting the relief, prevention ...

Microtia and Associated Deformities
Burt Brent, M.D. 2007
Visitor Comments [Support Groups] [Illustrated]
Associated Deformities ... Hearing Deficiency: ... embryological development dictates that the microtic ear is usually accompanied by middle ear abnormalities. In full-blown, classic microtia, one usually finds canal atresia and ossicular abnormalities. The middle ear deformity may range from diminished canal caliber and minor ossicular abnormalities to fused, hypoplastic ossicles and failure of mastoid bone aeration ... Facial Deficiencies: because the auricle develops from tissues of the branchial arches, it is not surprising that a significant percentage of microtic patients exhibit deficient facial components which originate from these embryological building blocks. Appearing as a flattened side of the face, this condition is known as hemifacial microsomia, and is basically an underdevelopment of the bony jaws and overlying soft tissues ...

Microtia Aural Atresia
The Ear Anomalies Program at the Institute of Reconstructive Plastic Surgery at the NYU Medical Center
Visitor Comments
[Support Groups] "... questions with answers ... for someone considering surgical "repair" of Microtia and Aural Atresia ..."
What Is Microtia? The term microtia indicates a small, abnormally shaped or absent external ear. It can be unilateral (occur on one side only) or bilateral (occur on both sides) ... Aural Atresia the term aural atresia refers to the absence or incomplete formation of an external ear canal ... In most patients microtia and aural atresia occur as an isolated condition ... in conjunction with other facial deformities. The most common syndrome in which microtia accompanies other anomalies is called hemifacial microsomia which is a variable deformity that can involve the ear ... The first priority during infancy is to ensure that there is sufficient hearing for language development ... The outer ear reconstruction usually involves 3-4 stages ... Bilateral (both right and left sides) aural atresia an audiogram is recommended within the first few days of life prior to discharge from the hospital ... Unilateral (one side) aural atresia an audiogram should ideally be performed within the first few days of life prior to discharge from the hospital ...

Microtia - Congenital Ear Institute
Dr. J. Arturo Bonilla, M.D. et al, Microtia-Congenital Ear Institute, 2004
Visitor Comments "... for someone considering surgical "repair" of Microtia or other treatment options ..."
Microtia - Congenital Ear Institute evaluates and operates hundreds of children born with a congenital ear deformity known as microtia/atresia ...

Hearing Screening
Arnot Ogden Medical Center, 2007
.Visitor Comments "... useful if you want to have your hearing tested."
About one out of 1,000 children in the nation is born deaf or with severe hearing loss that, if not detected before the child's second birthday, could interfere in speech and language skills development … Seven regional New York hospitals have been conducting newborn hearing screenings since the Spring of 1995 as part of a pilot program …. Two screening methods are being tested … The first, called Otoacoustic Emissions (OAE) testing, uses a tiny plug inserted into the baby's ear to project soft sounds … The second screening method, called Auditory Brainstem Response (ABR), uses electrodes attached to the infant's scalp to measure brain activity in response to "clicks" sounded in the child's ear.

Universal Newborn Hearing Screening
Statement of the American College of Medical Genetics, January 2000.
Visitor Comments
[for Professionals mainly] "Good concise statement."
Hearing loss is present at birth in 1-2 per 1,000 infants. Studies have shown that early intervention to facilitate the development of oral or manual communication can have a profound influence on the successful acquisition of language by dear children … At least 50% of all profound hearing loss can be attributed to the effects of single genes or gene pairs at many different loci … In addition to non-syndromic forms of deafness in which hearing loss is the only clinical finding, a large number of syndromic forms are recognized in which there is associated involvement of other tissues or organs.

Thomas Romo, III, M.D., NY Eye & Ear Infirmary
Visitor Comments [Support Groups] "... concise ... reliable source."
What is microtia?
means small ear ... a congenital birth defect that occurs in one out of every 8,000-10,000 natural births ... American Indians have a one in twenty-five hundred occurrence rate.
What causes microtia?
this birth defect is usually a non-inducible type of congenital malformation and that patient counseling is critical to prevent the guilt that is usually associated with this type of birth defect. Therefore, this ear deformity is not routinely caused by actions of the mother in the prenatal period including ingestion of caffeine, alcohol or routine medications. Two very strong medications, Thalidomide and Accutane can produce microtia auricular deformity but are associated with other major deformities such as heart abnormalities and intestinal and neurological deficits ...
Grade I - is a slightly small ear with identifiable structures and a small but present external ear canal.
Grade II - is a partial or hemi-ear with a closed off or stenotic external ear canal producing a conductive hearing loss.
Grade III - is absence of the external ear with a small peanut vestige structure and an absence of the external ear canal and ear drum.
Grade IV - is absence of the total ear or anotia.
How is microtia treated?
The surgical intervention for correction of microtia atresia at the New York Eye and Ear Infirmary is performed utilizing a unique and rarely found team approach ...

LATINOS\HISPANICS AND DISABILITY: An Annotated Resource Bibliography
Jose O. Arrom, Center on Emergent Disability, University of Illinois at Chicago
Visitor Comments "... useful for someone who needs information about the epidemiology of Latinos in relation to Anotia and Microtia ... for medical students and professionals ... exclusively an annotated bibliography."

Deafness/Hard of Hearing
U.S. Schools for the Deaf ...

Non-Syndromic Hearing Loss
The Rockfeller University
Rockefeller University Study ... Information ... Family History Questionnaire ...

Marriages among the Deaf
Gallaudet University, Department of Biology and Medical College of Virginia, Department of Human Genetics
In the United States, at least 85% of individuals with profound deafness marry another deaf person. There are few other genetic traits for which such a high degree of assortative mating (like marrying like) has been described ... One reason why this has not lead to a major increase in the frequency of deafness is because of the extreme degree of heterogeneity that exists among the many different forms of genetic deafness. In the case of marriages between couples who both have recessive deafness, the chance they will have deaf children can range from close to zero to 100%. If both partners have the same form of recessive deafness, all of their children will be deaf. This situation occurs in only about 5% of all marriages among the deaf. If the parents have different types of recessive deafness, all the children can be hearing. In about 80% of marriages among the deaf, all of the children are hearing. A deaf couple can have both deaf and hearing children if at least one has a dominant form of deafness or if one parent is a carrier of a recessive deafness gene for which the other parent has a "double dose". As progress is made in identifying the specific genes and genetic changes that can cause deafness, it will be possible to specify a couple's  chances with greater precision ...

Non-Syndromic Hearing Loss Study
The Rockefeller University
Individuals with a family history of hearing loss or deafness can help investigators to find genes ... If you have a family history of hearing loss with at least two family members with the onset of less than 45 years of age, please consider participating in this study at Rockefeller University ...

The Rockefeller University Study on the Genetics of Non-Syndromic Hearing Loss
The Rockefeller University
Family History Questionnaire ...

Prevalent Mutations in connexin 26 gene in sporadic and recessive non-syndromic deafness in Japanese population
S.Usami, Dept. of Genetics, Boys Town National Res Hosp.
There have been no reports regarding Cx26 mutations in Asian populations ... Three frequent mutations, 235delC, Y136stop, and R143, were found to be important ... None has the 35delG mutation, known as the most common in many other ethnic groups ...

The Epidemiology of Anotia and Microtia.
Harris, J. Kallen et al., Journal of Medical Genetics. 1996, 33(10), 809-813
We studied a large data set from three registries of congenital malformations ... from 0.76 per 10,000 births in the French ... 2.35 in the Swedish. Within the California program, there is a racial variability in prevalence with lower values among whites (and probably blacks) than in Hispanics and Asians ... In unilateral cases, the right side is more frequently malformed than the left side, especially when the ear malformation is isolated. There is a male excess, most pronounced in isolated forms. Among associated malformations, facial clefts and cardiac defects are the most common ones (each about 30% of infants with associated malformations) ...

Prevalence of Childhood Hearing Loss - The Hispanic Health and Nutrition Examination Survey and the National Health and Nutrition Examination Survey II
Lee, DJ., et al., American Journal of Epidemiology. 1996, 144(5), 442-449.
The prevalence (per 1,000) of bilateral hearing loss was 17.0 for African-American, 68.3 for Cuban-American, 27.6 for Mexican-American, 57.7 for Puerto Rican, and 15.5 for non-Hispanic white children ...

Ear Molds: An Alternative to Otoplasty
Plastic and Craniofacial Surgery for Infants and Children, 2007
The expense and concern surrounding this elective surgical procedure can often be avoided if early diagnosis is made and ear molding initiated. Common deformities such as prominent ear, Stahl's ear, cup ear, and lop ear may be successfully treated with the early application of ear molds ...

OMNI-Net Ukraine, February 5, 2002
Visitor Comments [for Professionals mainly] [Ukrainian]

Microtia - Congenital Ear Institute
Dr. J. Arturo Bonilla, M.D. et al, Microtia-Congenital Ear Institute, 2004
Visitor Comments [Spanish]
Microtia-Congenital Ear Institute evalúa y opera a cientos de niños que nacen con una deformidad congénita del oído conocida como microtia/atresia ...


Last Updated: 2007/08/15


American Medical Association