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Weill-Marchesani syndrome

rare

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.

Identifiers
MONDO:0018096 Orphanet:3449
Part of
Acromelic dysplasiaAutosomal genetic diseaseMultiple congenital anomalies/dysmorphic syndrome without intellectual disabilitySyndromic disease
Also known as
mesodermal dysmorphodystrophy congenital · spherophakia-brachymorphia syndrome · Weill Marchesani Syndrome · WM syndrome · WMS

Subtypes

All diseases Rare only
Disease Subtypes
Weill-Marchesani 4 syndrome, recessive
Weill-Marchesani syndrome 1
Weill-Marchesani syndrome 2, dominant
Weill-Marchesani syndrome 3

Rare disease

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