ODCs

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Waardenburg syndrome type 1

1 OMIM reference -
1 associated gene
31 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 5

Waardenburg syndrome type 3

1 OMIM reference -
1 associated gene
24 signs/symptoms

Waardenburg syndrome type 1

Waardenburg syndrome type 3

PAX3

(UniProt - OMIM)

PAX3

(UniProt - OMIM)


COMMON GENES	PAX3

Citations in the biomedical literature:

Waardenburg syndrome type 1		Waardenburg syndrome type 3
	Synonym(s): (no synonyms)		Synonym(s): - Klein-Waardenburg syndrome - Waardenburg syndrome with limb anomalies

	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 eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare skin disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

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

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


COMMON SIGNS	- Albinism (hair) - Autosomal dominant inheritance - Hearing loss / hypoacusia / deafness - Telecanthus / canthal dystopy - Tented upper lip

Waardenburg syndrome type 1		Waardenburg syndrome type 3
	Very frequent - Anomalies of ear and hearing - Anomalies of eyelids, eyelashes and lacrimal system - Anomalies of eyes and vision - Decreased hair pigmentation / hypopigmentation of hair - Defect / anomaly of lacrimal system - Eyebrows anomalies - Heterochromia / mixed colouring of iris - Irregular / patchy skin hypopigmentation - Prognathism / prognathia - Short / small nose - White forelock / piebaldism Frequent - Broad nasal root - Hair and scalp anomalies - Premature greying of hair - Synophris / synophrys - 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		Very frequent - Blepharophimosis / short palpebral fissures - Carpal bones fusion / synostosis - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Face / facial anomalies - Irregular length / shape of fingers - Microcephaly - Narrow nasal root - Restricted joint mobility / joint stiffness / ankylosis - Syndactyly of fingers / interdigital palm - Thick / bushy eyebrows - Upper limb segmental anomalies Frequent - Atelectasia / pulmonary collapse Occasional - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Atrial septal defect / interauricular communication - Camptodactyly of some fingers - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Motor deficit / trouble - Tracheomalacia / tracheobronchomalacia