Craniofacial-deafness-hand syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CDHS Sommer-Young-Wee-Frye syndrome |
| Number of Symptoms | 25 |
| OrphanetNr: | 1529 |
| OMIM Id: |
122880
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| ICD-10: |
Q87.0 |
| UMLs: |
C1852510 |
| MeSH: |
C536453 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 3 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000581) | Blepharophimosis | Very frequent [Orphanet] | 197 / 7739 | |||
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(HPO:0012368) | Flat face | Very frequent [Orphanet] | 106 / 7739 | |||
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(HPO:0000327) | Hypoplasia of the maxilla | 129 / 7739 | ||||
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(HPO:0000275) | Narrow face | Very frequent [Orphanet] | 76 / 7739 | |||
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(HPO:0003196) | Short nose | Very frequent [Orphanet] | 264 / 7739 | |||
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(HPO:0000494) | Downslanted palpebral fissures | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0009924) | Aplasia/Hypoplasia involving the nose | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0000160) | Narrow mouth | Very frequent [Orphanet] | 188 / 7739 | |||
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(HPO:0000272) | Malar flattening | 277 / 7739 | ||||
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0010650) | Hypoplasia of the premaxilla | Very frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0000457) | Depressed nasal ridge | Very frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0005280) | Depressed nasal bridge | Very frequent [Orphanet] | 381 / 7739 | |||
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(HPO:0000632) | Lacrimation abnormality | Very frequent [Orphanet] | 42 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0008625) | Severe sensorineural hearing impairment | 150 / 7739 | ||||
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(HPO:0008527) | Congenital sensorineural hearing impairment | 165 / 7739 | ||||
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(HPO:0009465) | Ulnar deviation of finger | Very frequent [Orphanet] | 48 / 7739 | |||
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(HPO:0001193) | Ulnar deviation of the hand or of fingers of the hand | 17 / 7739 | ||||
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(HPO:0100490) | Camptodactyly of finger | Frequent [Orphanet] | 212 / 7739 | |||
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(HPO:0003019) | Abnormality of the wrist | Very frequent [Orphanet] | 52 / 7739 | |||
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(OMIM) | Absent or small nasal bones | 1 / 7739 | ||||
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(OMIM) | Flat facial profile | 6 / 7739 | ||||
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(OMIM) | Slitlike nares | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Sommer et al. (1983) reported a syndrome in mother and infant daughter with features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss. Common radiologic findings included small maxilla, absent or small ... |
| Molecular genetics OMIM |
Because dystopia canthorum, a midfacial alteration, is the most reliable indicator of a PAX3 mutation among Waardenburg syndrome type I families (193500), according to Farrer et al. (1994), and because during murine development the Pax3 gene was expressed ... |