Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal skin colour
Very frequent (80-99%)HP:0001000
Convex bridge of nose
Very frequent (80-99%)HP:0000426
Deformity of face
Very frequent (80-99%)HP:0001999
Hearing impairment
Very frequent (80-99%)HP:0000365
Heterochromia iridis
Very frequent (80-99%)HP:0001100
Hypopigmentation of hair
Very frequent (80-99%)HP:0005599
Hypopigmented skin patches
Very frequent (80-99%)HP:0001053
Premature graying of the hair
Very frequent (80-99%)HP:0002216
Unibrow
Very frequent (80-99%)HP:0000664
Abnormality of the eyebrow
Frequent (30-79%)HP:0000534
Bilateral congenital sensorineural deafness
Frequent (30-79%)HP:0008527
Broad flat nasal bridge
Frequent (30-79%)HP:0000431
Eye disease
Frequent (30-79%)HP:0000478
Increased intercanthal distance
Frequent (30-79%)HP:0000506
Poliosis of anterior hair
Frequent (30-79%)HP:0002211
Sensorineural deafness
Frequent (30-79%)HP:0000407
Small nasal alae
Frequent (30-79%)HP:0000430
Abnormality of the gastrointestinal tract
Occasional (5-29%)HP:0011024
Absent/underdeveloped colon
Occasional (5-29%)HP:0100811
Aganglionic megacolon
Occasional (5-29%)HP:0002251
Blonde eyelashes
Occasional (5-29%)HP:0002227
Blue irides
Occasional (5-29%)HP:0000635
Bowel obstruction
Occasional (5-29%)HP:0005214
Camptodactyly
Occasional (5-29%)HP:0012385
Cleft lip, cleft palate
Occasional (5-29%)HP:0000202
Dizziness
Occasional (5-29%)HP:0002321
Elbow contracture
Occasional (5-29%)HP:0034391
Eye drop
Occasional (5-29%)HP:0000508
Myelomeningocele
Occasional (5-29%)HP:0002475
Peripheral neuropathy
Occasional (5-29%)HP:0009830
Related Conditions
Waardenburg syndrome co-occurrent with Hirschsprung disease(child)
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease(child)
Waardenburg syndrome type 1(child)
Waardenburg syndrome type 2(child)
Klein-Waardenberg's syndrome(child)
Congenital deficiency of pigment of skin(parent)
Genetic disorder of skin pigmentation(parent)
Multiple system malformation syndrome(parent)
Hearing loss associated with syndrome(parent)
Congenital hearing disorder(parent)
Quick Facts
- SNOMED CT
- 47434006
- UMLS CUI
- C3266898
- Fully Specified Name
- Waardenburg syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.