Weill-Marchesani Syndrome (WMS)

Weill-Marchesani Syndrome(来自ICD-11)

别称:

Spherophakia-Brachymorphia Syndrome

Gemss Syndrome

Spherophakia Brachymorphia Syndrome

Marchesani-Weill Syndrome

Weill-Marchesani Syndrome, Autosomal Recessive

Weill-Marchesani Syndrome, Autosomal Dominant

Mesodermal Dysmorphodystrophy, Congenital

Congenital Mesodermal Dysmorphodystrophy

Brachymorphy with Spherophakia Syndrome

Brachydactyly-Spherophakia Syndrome

Congenital Mesodermal Dystrophy

Marchesani Syndrome

Wms

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Weill-Marchesani Syndrome, also known as spherophakia-brachymorphia syndrome, is related to weill-marchesani syndrome 1 and ectopia lentis 2, isolated, autosomal recessive, and has symptoms including joint stiffness An important gene associated with Weill-Marchesani Syndrome is FBN1 (Fibrillin 1), and among its related pathways/superpathways are Infectious disease and Metabolism of proteins. Affiliated tissues include eye and bone, and related phenotypes are short stature and glaucoma

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