ODCs

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Craniofacial-deafness-hand syndrome

1 OMIM reference -
1 associated gene
17 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 3

Waardenburg syndrome type 1

1 OMIM reference -
1 associated gene
31 signs/symptoms

Craniofacial-deafness-hand syndrome

Waardenburg syndrome type 1

PAX3

(UniProt - OMIM)

PAX3

(UniProt - OMIM)


COMMON GENES	PAX3

Citations in the biomedical literature:

Craniofacial-deafness-hand syndrome		Waardenburg syndrome type 1
	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 developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare skin disease

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

	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: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal dominant inheritance - Defect / anomaly of lacrimal system - Short / small nose

Craniofacial-deafness-hand syndrome		Waardenburg syndrome type 1
	Very frequent - Blepharophimosis / short palpebral fissures - 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 - Ulnar deviation of fingers - Wrist / carpal anomalies Frequent - Camptodactyly of some fingers		Very frequent - Albinism (hair) - Anomalies of ear and hearing - Anomalies of eyelids, eyelashes and lacrimal system - Anomalies of eyes and vision - Decreased hair pigmentation / hypopigmentation of hair - Eyebrows anomalies - Hearing loss / hypoacusia / deafness - Heterochromia / mixed colouring of iris - Irregular / patchy skin hypopigmentation - Prognathism / prognathia - Telecanthus / canthal dystopy - White forelock / piebaldism Frequent - Broad nasal root - Hair and scalp anomalies - Premature greying of hair - Synophris / synophrys - Tented upper lip - Thin / hypoplastic ala nasi Occasional - Cleft lip - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Congenital cardiac anomaly / malformation / cardiopathy - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Meningocele - Ptosis - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Scoliosis - Spina bifida - Strabismus / squint