DDOD
MCID: ATS254
MIFTS: 21

Autosomal Dominant Deafness-Onychodystrophy Syndrome (DDOD)

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

Aliases & Classifications for Autosomal Dominant Deafness-Onychodystrophy Syndrome

MalaCards integrated aliases for Autosomal Dominant Deafness-Onychodystrophy Syndrome:

Name: Autosomal Dominant Deafness-Onychodystrophy Syndrome 52
Robinson Miller Bensimon Syndrome 52 71
Familial Ectodermal Dysplasia with Sensori-Neural Deafness and Other Anomalies 52
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant 71
Deafness and Onychodystrophy, Dominant Form 52
Robinson-Miller-Bensimon Syndrome 52
Ddod Syndrome 52
Ddod 52

Classifications:



Summaries for Autosomal Dominant Deafness-Onychodystrophy Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79499 Definition Dominant 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. Epidemiology The prevalence is unknown but it has been reported in 22 individuals from ten families to date. Clinical description The 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. Etiology DDOD syndrome is caused, in some cases, by heterozygous mutations in the ATP6V1B2 gene (8p21.3) encoding a vacuolar ATPase (V-ATPase) involved in protein translocation . It is at present unknown whether there can be genetic heterogeneity or not, as not all known families have been tested. Diagnostic methods Diagnosis 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 diagnosis The 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 diagnosis Prenatal diagnosis of DDOD syndrome has not been performed to date. Genetic counseling DDOD syndrome is inherited autosomal dominantly so if the clinical diagnosis has been established reliably, genetic counseling is possible. Management and treatment Treatment 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. Prognosis The disease is not life threatening. The main influence on quality of life is hearing loss. Visit the Orphanet disease page for more resources.

MalaCards based summary : Autosomal Dominant Deafness-Onychodystrophy Syndrome, also known as robinson miller bensimon syndrome, is related to deafness, congenital, with onychodystrophy, autosomal dominant and deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome. Affiliated tissues include eye, brain and testes, and related phenotypes are severe sensorineural hearing impairment and triphalangeal thumb

Related Diseases for Autosomal Dominant Deafness-Onychodystrophy Syndrome

Diseases in the Deafness-Onychodystrophy Syndrome family:

Deafness, Congenital, with Onychodystrophy, Autosomal Dominant Autosomal Dominant Deafness-Onychodystrophy Syndrome

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

# Related Disease Score Top Affiliating Genes
1 deafness, congenital, with onychodystrophy, autosomal dominant 11.5
2 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 11.2
3 branchiootic syndrome 1 10.2
4 deafness-onychodystrophy syndrome 10.2

Symptoms & Phenotypes for Autosomal Dominant Deafness-Onychodystrophy Syndrome

Human phenotypes related to Autosomal Dominant Deafness-Onychodystrophy Syndrome:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 severe sensorineural hearing impairment 31 hallmark (90%) HP:0008625
2 triphalangeal thumb 31 frequent (33%) HP:0001199
3 oligodontia 31 frequent (33%) HP:0000677
4 absent toenail 31 frequent (33%) HP:0001802
5 intellectual disability 31 occasional (7.5%) HP:0001249
6 seizures 31 occasional (7.5%) HP:0001250
7 pes planus 31 occasional (7.5%) HP:0001763
8 abnormal facial shape 31 occasional (7.5%) HP:0001999
9 dolichocephaly 31 occasional (7.5%) HP:0000268
10 hypoplastic toenails 31 occasional (7.5%) HP:0001800
11 poor speech 31 occasional (7.5%) HP:0002465
12 high forehead 31 occasional (7.5%) HP:0000348
13 short thumb 31 occasional (7.5%) HP:0009778
14 absent thumbnail 31 occasional (7.5%) HP:0012554
15 aplasia cutis congenita 31 occasional (7.5%) HP:0001057
16 small, conical teeth 31 occasional (7.5%) HP:0200141
17 absent fifth fingernail 31 occasional (7.5%) HP:0200104

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:

40
Eye, Brain, Testes

Publications for Autosomal Dominant Deafness-Onychodystrophy Syndrome

Articles related to Autosomal Dominant Deafness-Onychodystrophy Syndrome:

# Title Authors PMID Year
1
EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities. 61
31655144 2019
2
A subunit of V-ATPases, ATP6V1B2, underlies the pathology of intellectual disability. 61
31257146 2019
3
Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation. 61
28396750 2017
4
A Danish family with dominant deafness-onychodystrophy syndrome. 61
24421866 2013
5
Report of a further family with dominant deafness-onychodystrophy (DDOD) syndrome. 61
21998865 2011

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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