Williams syndrome
MONDO:0008678Mondo
Findings
No curated finding names Williams syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)
Definition from the Mondo Disease Ontology (MONDO:0008678), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Death in early adulthood
HPO, annotations 2026-09-02
Features
224 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abdominal painHPOHP:0002027
- Very frequent (80% to 99% of cases)
- Abnormal nervous system morphologyHPOHP:0012639
- Very frequent (80% to 99% of cases)
- Abnormal pelvic girdle bone morphologyHPOHP:0002644
- Very frequent (80% to 99% of cases)
- Abnormal social behaviorHPOHP:0012433
- Very frequent (80% to 99% of cases)
- Abnormal speech patternHPOHP:0002167
- Very frequent (80% to 99% of cases)
- Abnormality of extrapyramidal motor functionHPOHP:0002071
- Very frequent (80% to 99% of cases)
Show the remaining 212
- Broad foreheadHPOHP:0000337
- Very frequent (80% to 99% of cases)
- Coarse facial featuresHPOHP:0000280
- Very frequent (80% to 99% of cases)
- DepressionHPOHP:0000716
- Very frequent (80% to 99% of cases)
- DysgraphiaHPOHP:0010526
- Very frequent (80% to 99% of cases)
- DysmetriaHPOHP:0001310
- Very frequent (80% to 99% of cases)
- Elfin faciesHPOHP:0004428
- Very frequent (80% to 99% of cases)
Where it sits
Other names
4 names
Resolves to: Williams syndrome
- Also called
- deletion 7q11.23monosomy 7q11.23Williams-Beuren syndromeWilliams-Beuren syndrome (WBS)