Deafness-onychodystrophy syndrome
Synonyms: Hearing loss-onychodystrophy syndrome
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Deafness-onychodystrophy syndrome | Hearing loss-onychodystrophy syndrome |
| fr | Syndrome de surdité-onychodystrophie | |
| de | Schwerhörigkeit-Onychodystrophie-Syndrom | |
| es | Síndrome de sordera-onicodistrofia | Síndrome de hipoacusia-onicodistrofia |
| it | Sindrome sordità e onicodistrofia | Sindrome DDOD · Sindrome sordità-onicodistrofia, autosomica dominante |
| nl | Doofheid - onychodystrofie-syndroom | |
| pt | Síndrome de surdez-onicodistrofia | Síndrome de perda auditiva-onicodistrofia |
| pl | Zespół niedosłuchu i onychodystrofii | Zespół autosomalnie dominującej głuchoty i onychodystrofii · Zespół DDOD |
| cs | Syndrom zahrnující hluchotu a onychodystrofii | = en |
| uk | Синдром глухоти-оніходистрофії | Синдром приглухуватості-оніходистрофії |
| zh | 耳聋-甲营养不良综合征 | 听力丧失-甲营养不良综合征 |
| tr | Sağırlık-onikodistrofi sendromu | İşitme kaybı onikodistrofi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 124480 | BTNT | validated | |
| OMIM | 220500 | BTNT | validated | |
| MONDO | 17922 | E | validated | |
| UMLS | C4751208 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases - ORPHA:79370Syndromic nail anomaly
rare genetic diseases; rare skin diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3231
- This record as JSON: /data/d/3231.json