ORPHA:904
Williams syndrome
Also called Deletion 7q11.23, Monosomy 7q11.23, Williams-Beuren syndrome
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Antenatal, Neonatal
- Estimated prevalence
- 1-5 / 10 000 (Norway)
- Rarity class
- 1-5 / 10 000
ORPHA:904 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Wide mouth
- Macroglossia
- Thick lower lip vermilion
- Everted lower lip vermilion
- Narrow face
- Coarse facial features