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Waardenburg syndrome type 1
1 OMIM reference -
1 associated gene
20 connected diseases
31 signs/symptoms
Disease Type of connection
Alveolar rhabdomyosarcoma
Craniofacial-deafness-hand syndrome
Waardenburg syndrome type 3
Waardenburg syndrome type 2
Kallmann syndrome
Neurologic Waardenburg-Shah syndrome
Waardenburg-Shah syndrome
Isolated Klippel-Feil syndrome
Hypodontia - dysplasia of nails
Oligodontia
Spinocerebellar ataxia type 17
X-linked dystonia-parkinsonism
Chronic myeloid leukemia
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Clear cell renal carcinoma
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Ocular albinism with congenital sensorineural deafness
Papillary renal cell carcinoma
Tietz syndrome
Synonym(s):
(no synonyms)
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 -
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 -
No MeSH references
Gene symbol UniProt reference OMIM reference
PAX3 P23760606597
Very frequent
- Albinism (hair)
- Anomalies of ear and hearing
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of eyes and vision
- Autosomal dominant inheritance
- Decreased hair pigmentation / hypopigmentation of hair
- Defect / anomaly of lacrimal system
- Eyebrows anomalies
- Hearing loss / hypoacusia / deafness
- Heterochromia / mixed colouring of iris
- Irregular / patchy skin hypopigmentation
- Prognathism / prognathia
- Short / small nose
- 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