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Waardenburg syndrome type 1

disorder
SNOMED 1010606009CUI C1847800

Overview

Waardenburg syndrome type 1 is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal eye
Very frequent (80-99%)HP:0000478
Abnormality of tear production
Very frequent (80-99%)HP:0000632
Abnormality of vision
Very frequent (80-99%)HP:0000504
Blue irides
Very frequent (80-99%)HP:0000635
Congenital neurosensory deafness
Very frequent (80-99%)HP:0008527
Grey eyebrow
Very frequent (80-99%)HP:0002226
Grey eyelashes
Very frequent (80-99%)HP:0002227
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
Increased intercanthal distance
Very frequent (80-99%)HP:0000506
Mandibular hyperplasia
Very frequent (80-99%)HP:0000303
Nasal hypoplasia
Very frequent (80-99%)HP:0003196
Poliosis of anterior hair
Very frequent (80-99%)HP:0002211
Thick eyebrow
Very frequent (80-99%)HP:0000574
White hair
Very frequent (80-99%)HP:0011364
Abnormality of the hair shaft
Frequent (30-79%)HP:0001595
Increased width of bridge of nose
Frequent (30-79%)HP:0000431
Premature graying of the hair
Frequent (30-79%)HP:0002216
Small nasal alae
Frequent (30-79%)HP:0000430
Tented upper lip
Frequent (30-79%)HP:0010804
Unibrow
Frequent (30-79%)HP:0000664
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680
Aganglionic megacolon
Occasional (5-29%)HP:0002251
Cleft of palate
Occasional (5-29%)HP:0000175
Cleft of upper lip
Occasional (5-29%)HP:0000204
Eyelid ptosis
Occasional (5-29%)HP:0000508
Meningocele
Occasional (5-29%)HP:0002435
Myelomeningocele
Occasional (5-29%)HP:0002475

Related Conditions

Waardenburg's syndrome(parent)
Congenital oculocutaneous hypopigmentation(parent)
Dystopia canthorum(parent)
Congenital anomaly of hair(parent)

Quick Facts

SNOMED CT
1010606009
UMLS CUI
C1847800
Fully Specified Name
Waardenburg syndrome type 1 (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.