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 Entire classification		Classification (ICD10): - Endocrine, nutritional and metabolic diseases - See
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 - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
PAX3	P23760	606597

- Autosomal dominant inheritance
- Blepharophimosis / short palpebral fissures
- Carpal bones fusion / synostosis
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- 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

- Albinism (hair)
- Atelectasia / pulmonary collapse
- Telecanthus / canthal dystopy

- 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