ODCs

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1 OMIM reference -
1 associated gene
24 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 4

1 OMIM reference -
1 associated gene
17 signs/symptoms

Waardenburg syndrome type 3

Craniofacial-deafness-hand syndrome

PAX3

Citations in the biomedical literature:

Waardenburg syndrome type 3		Craniofacial-deafness-hand syndrome
	Synonym(s): - Klein-Waardenburg syndrome - Waardenburg syndrome with limb anomalies		Synonym(s): - CDHS - Sommer-Young-Wee-Frye syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare otorhinolaryngologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536453


COMMON SIGNS	- Autosomal dominant inheritance - Blepharophimosis / short palpebral fissures - Camptodactyly of some fingers - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures

Waardenburg syndrome type 3		Craniofacial-deafness-hand syndrome
	Very frequent - Carpal bones fusion / synostosis - Face / facial anomalies - Hearing loss / hypoacusia / deafness - Irregular length / shape of fingers - Microcephaly - Narrow nasal root - Restricted joint mobility / joint stiffness / ankylosis - Syndactyly of fingers / interdigital palm - Tented upper lip - Thick / bushy eyebrows - Upper limb segmental anomalies Frequent - Albinism (hair) - Atelectasia / pulmonary collapse - Telecanthus / canthal dystopy Occasional - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Atrial septal defect / interauricular communication - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Motor deficit / trouble - Tracheomalacia / tracheobronchomalacia		Very frequent - Defect / anomaly of lacrimal system - Depressed nasal bridge - Depressed premaxillary region / midface - 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