Deafness-craniofacial syndrome
Synonyms: Hearing loss-craniofacial syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Deafness-craniofacial syndrome | Hearing loss-craniofacial syndrome |
| fr | Syndrome de surdité-syndrome craniofacial | |
| de | Syndrom der Taubheit mit kranio-fazialer Dysmorphie | |
| es | Síndrome craneofacial-sordera | Síndrome craneofacial-hipoacusia |
| it | Sindrome craniofacciale - sordità | |
| nl | Doofheid-craniofaciaal syndroom | Gehoorverlies-craniofaciaal syndroom |
| pt | Síndrome cranio-facial-surdez | Síndrome cranio-facial-perda auditiva |
| pl | Zespół czaszkowo-twarzowy z głuchotą | = en |
| cs | Hluchota a kraniofaciální syndrom | = en |
| uk | Глухота-краніофаціальний синдром | Черепно-лицевий синдром з втратою слуху |
| zh | 耳聋-颅面综合征 | 听力丧失-颅面综合征 |
| tr | Sağırlık-kraniyofasiyal sendrom | İşitme kaybı-kraniyofasiyal sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 125230 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0007428 | E | validated | |
| MeSH | C565118 | E | validated | |
| UMLS | C1852278 | E | validated | |
| GARD | 1686 | 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 (3):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 3690878[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3690878[PMID] |
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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0010297 | Bifid tongue | |
| HP:0000324 | Facial asymmetry | |
| HP:0002007 | Frontal bossing | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000200 | Short lingual frenulum | |
| HP:0004524 | Temporal hypotrichosis | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0000490 | Deeply set eye | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000322 | Short philtrum | |
| HP:0000582 | Upslanted palpebral fissure | |
Run the differential on the 9 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3241
- This record as JSON: /data/d/3241.json