Weill-Marchesani Syndrome (Mesodermal Dysmorphodystrophy, Congenital; Spherophakia Brachymorphia Syndrome; Weill Marchesani Syndrome; Weill-Marchesani Syndrome, Autosomal Recessive)

Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ectopia lentis; glaucoma), and proportionate short stature. Cardiovascular anomalies are occasionally seen.


Diagnosis and therapies

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Symptoms and diagnosis

Symptoms:

    

Wikipedia

Weill-Marchesani syndrome

More information

Reported cases - Summary of cases reported on this diseaseWHO - World Health OrganizationPubMed - A service of the National Library of Medicine and National Institutes of HealthMEDLINE - Literature from the National Library of MedicineMeSH - Medical Subject HeadingsDeCS - Health Sciences Descriptors
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