Синдром Вайля-Маркесані
ORPHA:3449· ICD-10 Q87.0· Weill-Marchesani syndrome
Визначення(English summary)
Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.
- Поширеність
- 1-9 / 100 000
- Успадкування
- Autosomal dominant, Autosomal recessive
- Вік початку
- Infancy, Neonatal