Deafness - onychodystrophy, autosomal dominant

General Information (adopted from Orphanet):

Synonyms, Signs: DDOD
ddod syndrome
Number of Symptoms 18
OrphanetNr: 79499
OMIM Id: 124480
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Deafness - onychodystrophy
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
 -Rare otorhinolaryngologic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0001592) Selective tooth agenesis 16 / 7739
2
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
3
 (HPO:0001770) Toe syndactyly 149 / 7739
4
 (HPO:0010717) Osseous syndactyly of toes 1 / 7739
5
 (HPO:0010621) Cutaneous syndactyly of toes 36 / 7739
6
 (HPO:0001798) Anonychia 28 / 7739
7
 (HPO:0001792) Small nail 55 / 7739
8
 (HPO:0008404) Nail dystrophy 89 / 7739
9
 (HPO:0005866) Opposable triphalangeal thumb 5 / 7739
10
 (OMIM) Short terminal phalanx of the fifth finger 1 / 7739
11
 (OMIM) Coniform teeth (in some patents) 1 / 7739
12
 (MedDRA:10072883) Brachydactyly 153 / 7739
13
 (OMIM) Hypoplasia or absence of the terminal phalanges 1 / 7739
14
 (OMIM) Bulbous swelling of the fingertips 1 / 7739
15
 (OMIM) Fissured nails 1 / 7739
16
 (HPO:0001199) Triphalangeal thumb 56 / 7739
17
 (HPO:0005707) Bilateral triphalangeal thumbs 5 / 7739
18
 (HPO:0005725) Nonopposable triphalangeal thumb 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The DDOD syndrome is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy. Conical, hypoplastic teeth is also a feature (Robinson et al., 1962).

See also DOOR syndrome (220500), an autosomal recessive disorder, which includes ...
Clinical Description OMIM Robinson et al. (1962) presented the pedigree of 17 persons in 3 generations with 5 affected. The propositus was a 15-year-old girl with fissured small dystrophic nails, coniform teeth with selective tooth agenesis, and syndactylism of the toes ...