Weill-Marchesani syndrome

Orpha code: 3449OMIM code: 614819

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
Spherophakia-brachymorphia syndrome
Sferofakia - brachymorfia
ORPHA code
3449
OMIM code
614819
ICD10 code
Q87.0
ICD11 code
9C61.42

No additional description.

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