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Williams syndrome

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Williams syndrome

ORPHA:904Malformation syndrome

Also called Deletion 7q11.23 · Monosomy 7q11.23 · Williams-Beuren syndrome

What it is

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 (e.g., joint laxity). Facial dysmorphism is characterized by a broad forehead, bitemporal narrowing, periorbital fullness, stellate and/or lacy iris pattern, short upturned nose with bulbous tip, long philtrum, wide mouth, full lips and mild micrognathia.

Key facts

Prevalence
1-5 / 10 000 (Norway)
Age of onset
Antenatal, Neonatal
Inheritance
Autosomal dominant
Classified as
Malformation syndrome

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

Very common80–99%

49

Common30–79%

53

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

BAZ1BRole in the phenotype of
BUD23Role in the phenotype of
CLIP2Role in the phenotype of
DNAJC30Candidate gene tested
EIF4HRole in the phenotype of
ELNRole in the phenotype of
FKBP6Role in the phenotype of
GTF2IRole in the phenotype of
GTF2IRD1Role in the phenotype of
GTF2IRD2Role in the phenotype of
LIMK1Role in the phenotype of
METTL27Role in the phenotype of
NCF1Role in the phenotype of
RFC2Candidate gene tested
STX1ARole in the phenotype of
TBL2Role in the phenotype of
TMEM270Role in the phenotype of
VPS37DRole in the phenotype of

ICD-10 codes

Q93.8filed under a broader ICD-10 category

Related health topics

Genetic Disorders

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 7891MEDDRA 10049644MESH D018980MONDO 0008678OMIM 194050UMLS C0175702

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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