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Craniofacial-deafness-hand syndrome

1 OMIM reference -
1 associated gene
17 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
7 signs/symptoms

Craniofacial-deafness-hand syndrome

Tietz syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PAX3	(0.52)	MITF

Citations in the biomedical literature:

Craniofacial-deafness-hand syndrome		Tietz syndrome
	Synonym(s): - CDHS - Sommer-Young-Wee-Frye syndrome		Synonym(s): - Hypopigmentation-deafness syndrome

	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 otorhinolaryngologic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C536453		External references: 1 OMIM reference - 1 MeSH reference: C536919


COMMON SIGNS	- Autosomal dominant inheritance

Craniofacial-deafness-hand syndrome		Tietz syndrome
	Very frequent - 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		Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Absent / decreased / thin eyebrows - Anterior chamber anomaly - Decreased hair pigmentation / hypopigmentation of hair - Diffuse / generalised skin hypopigmentation / cutaneous albinism - Hearing loss / hypoacusia / deafness