MCID: ATS254
MIFTS: 10

Autosomal Dominant Deafness-Onychodystrophy Syndrome

Categories: Rare diseases, Ear diseases, Genetic diseases, Neuronal diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Autosomal Dominant Deafness-Onychodystrophy Syndrome

MalaCards integrated aliases for Autosomal Dominant Deafness-Onychodystrophy Syndrome:

Name: Autosomal Dominant Deafness-Onychodystrophy Syndrome 50
Robinson Miller Bensimon Syndrome 50 69
Familial Ectodermal Dysplasia with Sensori-Neural Deafness and Other Anomalies 50
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant 69
Deafness and Onychodystrophy, Dominant Form 50
Robinson-Miller-Bensimon Syndrome 50
Ddod Syndrome 50
Ddod 50

Classifications:



Summaries for Autosomal Dominant Deafness-Onychodystrophy Syndrome

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 79499disease definitiondominant deafness-onychodystrophy (ddod) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.epidemiologythe prevalence is unknown but it has been reported in 22 individuals from ten families to date.clinical descriptionthe main clinical characteristics of ddod syndrome are severe sensorineural hearing loss or deafness and onychodystrophy (small or absent fingernails and toenails, sometimes limited to the nails of the first and fifth digits). brachydactyly, long, finger-like or tri-phalangeal thumbs as well as conical, hypoplastic teeth or oligodontia (see this term) have also been reported in several patients. syndactyly, minor facial dysmorphism (mild hypotelorism, deep set eyes and midface hypoplasia), and epilepsy have been seen in individual cases. unlike doors syndrome (see this term), ddod patients follow a normal development and have normal intelligence.etiologyddod syndrome is caused, in some cases, by heterozygousmutations in the atp6v1b2 gene (8p21.3) encoding a vacuolar atpase (v-atpase) involved in proteintranslocation. it is at present unknown whether there can be genetic heterogeneity or not, as not all known families have been tested.diagnostic methodsdiagnosis is based on the presence of characteristic clinical findings. x-rays of the hands and feet and a brain stem auditory evoked response (baer) test for hearing loss should be performed. molecular genetic testing identifying a atp6v1b2 mutation may confirm the diagnosis but as it is at present uncertain whether ddod syndrome is genetically heterogeneous, the absence of a mutation will not mean that a diagnosis of ddod syndrome is incorrect.differential diagnosisthe main differential diagnosis is doors syndrome and coffin-siris syndrome (see these terms). the limb anomalies seen in ddod syndrome can also be found in several other entities including zimmermann-laband syndrome, adams-oliver syndrome, temple-baraitser syndrome and progeroid syndrome, petty type (see these terms).antenatal diagnosisprenatal diagnosis of ddod syndrome has not been performed to date.genetic counselingddod syndrome is inherited autosomal dominantly so if the clinical diagnosis has been established reliably, genetic counseling is possible.management and treatmenttreatment is supportive and involves special education for the hearing impaired as well as regular follow-up. corrective surgery is in principle possible for those with syndactyly, although generally not necessary.prognosisthe disease is not life threatening. the main influence on quality of life is hearing loss.visit the orphanet disease page for more resources. last updated: 9/10/2014

MalaCards based summary : Autosomal Dominant Deafness-Onychodystrophy Syndrome, also known as robinson miller bensimon syndrome, is related to deafness, congenital, with onychodystrophy, autosomal dominant. Affiliated tissues include testes, brain and eye.

Related Diseases for Autosomal Dominant Deafness-Onychodystrophy Syndrome

Diseases in the Autosomal Dominant Deafness-Onychodystrophy Syndrome family:

Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

Diseases related to Autosomal Dominant Deafness-Onychodystrophy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 deafness, congenital, with onychodystrophy, autosomal dominant 11.1

Symptoms & Phenotypes for Autosomal Dominant Deafness-Onychodystrophy Syndrome

Drugs & Therapeutics for Autosomal Dominant Deafness-Onychodystrophy Syndrome

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Deafness-Onychodystrophy Syndrome

Genetic Tests for Autosomal Dominant Deafness-Onychodystrophy Syndrome

Anatomical Context for Autosomal Dominant Deafness-Onychodystrophy Syndrome

MalaCards organs/tissues related to Autosomal Dominant Deafness-Onychodystrophy Syndrome:

39
Testes, Brain, Eye

Publications for Autosomal Dominant Deafness-Onychodystrophy Syndrome

Variations for Autosomal Dominant Deafness-Onychodystrophy Syndrome

Expression for Autosomal Dominant Deafness-Onychodystrophy Syndrome

Search GEO for disease gene expression data for Autosomal Dominant Deafness-Onychodystrophy Syndrome.

Pathways for Autosomal Dominant Deafness-Onychodystrophy Syndrome

GO Terms for Autosomal Dominant Deafness-Onychodystrophy Syndrome

Sources for Autosomal Dominant Deafness-Onychodystrophy Syndrome

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70 UMLS via Orphanet
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