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Klein-Waardenberg's syndrome

disorder
SNOMED 237918004CUI C0079661

Overview

Klein-Waardenberg's syndrome 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.

Bilateral wrist contracture
Always present (100%)HP:0012453
Blonde eyebrow
Always present (100%)HP:0002226
Blonde eyelashes
Always present (100%)HP:0002227
Blue irides
Always present (100%)HP:0000635
Convex bridge of nose
Always present (100%)HP:0000426
Delayed fine motor development
Always present (100%)HP:0010862
Epicanthus inversus
Always present (100%)HP:0000537
Flexion deformity of finger
Always present (100%)HP:0012785
Hyperplasia of nasal tip
Always present (100%)HP:0005274
Partial absent skin pigmentation
Always present (100%)HP:0007443
Posteriorly angulated ears
Always present (100%)HP:0000358
Premature graying of the hair
Always present (100%)HP:0002216
Short palpebral fissure
Always present (100%)HP:0012745
Thin nostrils
Always present (100%)HP:0009933
Abnormalities of the fingers
Very frequent (80-99%)HP:0001167
Abnormality of the arm
Very frequent (80-99%)HP:0002817
Abnormality of the face
Very frequent (80-99%)HP:0000271
Blepharophimosis
Very frequent (80-99%)HP:0000581
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Fusion of wrist bones
Very frequent (80-99%)HP:0005048
Hypoacusis
Very frequent (80-99%)HP:0000365
Inverted V-shaped upper lip
Very frequent (80-99%)HP:0010804
Nasal bridge, thin
Very frequent (80-99%)HP:0000446
Stiff joint
Very frequent (80-99%)HP:0001387
Thick eyebrow
Very frequent (80-99%)HP:0000574
Webbed fingers
Very frequent (80-99%)HP:0010554
Amyotrophy involving the upper limbs
Frequent (30-79%)HP:0009129
Axillary pterygium
Frequent (30-79%)HP:0001060
Increased intercanthal distance
Frequent (30-79%)HP:0000506

Related Conditions

Multiple malformation syndrome with limb defect as major feature(parent)
Congenital anomaly of limb(parent)
Waardenburg's syndrome(parent)
Congenital sensorineural hearing loss(parent)
Dystopia canthorum(parent)

Quick Facts

SNOMED CT
237918004
UMLS CUI
C0079661
Fully Specified Name
Waardenburg syndrome type 3 (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.