Weill-Marchesani syndrome 2, dominant

Weill-Marchesani syndrome 2, dominant is a rare condition marked by several distinct features. It includes progressive stiffness in the joints, eye problems such as glaucoma, shorter than average height, and dislocated lenses. The syndrome has been reported in a family across three generations, suggesting that it may be passed down in an autosomal dominant pattern. This condition is sometimes known by the acronym GEMSS, which stands for Glaucoma, Ectopia (lens displacement), Microspherophakia (small, round lens), Stiff joints, and Short stature. It shows similarities to another condition known as Moore-Federman syndrome. The information available comes from careful clinical observations in affected family members.

People with this condition may experience gradually worsening joint stiffness, eye issues like glaucoma, being short in stature, and problems with the lens in the eye, such as dislocation. These signs help define the syndrome and distinguish it from other conditions.

This condition is thought to be caused by genetic factors and appears to be inherited in an autosomal dominant manner. The FBN1 gene has been identified as a known gene associated with Weill-Marchesani syndrome 2, dominant. This means that changes in this gene may contribute to the development of the syndrome in families.

Information about treatment options is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.