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Craniofacial-deafness-hand syndrome

1 OMIM reference -
1 associated gene
17 signs/symptoms

COMMON GENES: 1

Alveolar rhabdomyosarcoma

1 OMIM reference -
3 associated genes
No signs/symptoms info

Craniofacial-deafness-hand syndrome

Alveolar rhabdomyosarcoma

PAX3	(UniProt - OMIM)		FOXO1	(UniProt - OMIM)
			PAX3	(UniProt - OMIM)
			PAX7	(UniProt - OMIM)


COMMON GENES	PAX3

Citations in the biomedical literature:

Craniofacial-deafness-hand syndrome		Alveolar rhabdomyosarcoma
	Synonym(s): - CDHS - Sommer-Young-Wee-Frye syndrome		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare oncologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

	External references: 1 OMIM reference - 1 MeSH reference: C536453		External references: 1 OMIM reference - 1 MeSH reference: D018232

Craniofacial-deafness-hand syndrome
	Very frequent - Autosomal dominant inheritance - Blepharophimosis / short palpebral fissures - Defect / anomaly of lacrimal system - Depressed nasal bridge - Depressed premaxillary region / midface - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Flat face - Flattened nose - Hypertelorism - Microstomia / little mouth - Narrow face - Nasal atrophy / hypoplasia / arhinia / rudimentary nose - Sensorineural deafness / hearing loss - Short / small nose - Ulnar deviation of fingers - Wrist / carpal anomalies Frequent - Camptodactyly of some fingers
Alveolar rhabdomyosarcoma
(no data available)