Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short Stature Syndrome (GEMSS)

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UMLS 71 C1869115

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2084DefinitionGlaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome (see this term).Visit the Orphanet disease page for more resources.

MalaCards based summary : Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short Stature Syndrome, also known as weill-marchesani syndrome, autosomal dominant, is related to weill-marchesani syndrome 2 and weill-marchesani syndrome, and has symptoms including joint stiffness An important gene associated with Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short Stature Syndrome is FBN1 (Fibrillin 1).

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