Craniofacial-deafness-hand syndrome
Synonyms: CDHS · Craniofacial-hearing loss-hand syndrome · Sommer-Young-Wee-Frye syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (including flat facial profile normal calvarium, hypertelorism, small downslanting palpebral fissures with an antimongoloid slant, hypoplastic nose with button tip and slitlike nares, and small, pursed mouth), profound sensorineural hearing loss/deafness and hand anomalies such as ulnar deviations and contractures of the hand.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Craniofacial-deafness-hand syndrome | CDHS · Craniofacial-hearing loss-hand syndrome · Sommer-Young-Wee-Frye syndrome |
| fr | Syndrome d'anomalies craniofaciales-surdité-anomalie de la main | CDHS · Syndrome de Sommer-Young Wee-Frye |
| de | Schädel-Gesicht-Schwerhörigkeit-Hand-Syndrom | CDHS · Sommer-Young-Wee-Frye-Syndrom |
| es | Síndrome craneofacial-sordera-mano | CDHS · Síndrome craneofacial-hipoacusia-mano · Síndrome de Sommer-Young-Wee-Frye |
| it | Sindrome craniofacciale - sordità - mano | CDHS · Sindrome di Sommer-Young-Wee-Frye |
| nl | Craniofaciaal - doofheid - hand-syndroom | CDHS · Craniofaciaal - gehoorverlies - hand-syndroom · Syndroom van Sommer-Young-Wee-Frye |
| pt | Síndrome craniofacial-surdez-mão | Síndrome Sommer-Young-Wee-Frye |
| pl | Zespół czaszkowo-twarzowo-dłoniowy z głuchotą | CDHS · Zespół Sommera, Young, Wee i Frye |
| cs | Syndrom zahrnující hluchotu, postižení ruky a kraniofaciální abnormality | CDHS · Sommerové-Young-Weeové-Fryeův syndrom |
| uk | Синдром краніофаціальний-глухоти-аномалії рук | CDHS · Черепно-лицево-ручний синдром із втратою слуху · Синдром Зоммера-Янг-Ві-Фрая |
| zh | 颅面-耳聋-手综合症 | 颅面-听力丧失-手综合症 |
| tr | Kraniyofasiyal-sağırlık-el sendromu | CDHS · Sommer-Young-Wee-Frye sendromu · Kraniyofasiyal-işitme kaybı-el sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 122880 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0007395 | E | validated | |
| MeSH | C536453 | E | validated | |
| UMLS | C1852510 | E | validated | |
| GARD | 1571 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PAX3 | Disease-causing germline mutation(s) in | Assessed | HGNC:8617 | ENSG00000135903 | 606597 | 2q36.1 | paired box 3 | 8664898[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 14556253[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_14556253[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
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003019 | Abnormality of the wrist | |
| HP:0009924 | Aplasia/Hypoplasia involving the nose | |
| HP:0000581 | Blepharophimosis | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0012368 | Flat face | |
| HP:0000316 | Hypertelorism | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0000564 | Lacrimal duct atresia | |
| HP:0000275 | Narrow face | |
| HP:0000160 | Narrow mouth | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0003196 | Short nose | |
| HP:0009465 | Ulnar deviation of finger | |
| HP:0003049 | Ulnar deviation of the wrist | |
| Frequent (79-30%) | ||
| HP:0100490 | Camptodactyly of finger | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1529
- This record as JSON: /data/d/1529.json