MED12-related intellectual disability syndrome

MED12-related intellectual disability syndrome is an X-linked condition that causes intellectual disability and various other physical features. It is an umbrella term that includes conditions previously known as Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/FG syndrome. These conditions are linked by mutations in the MED12 gene. People with this condition often share common features such as intellectual disability, and changes in brain structure such as an abnormal or absent corpus callosum. Other physical features, including blepharophimosis (narrowing of the eye openings) and marfanoid habitus (a body type that may be tall and slender), can vary in their appearance and severity among affected individuals.

Common symptoms include intellectual disability as a central feature. Some people may have brain development differences like dysgenesis or agenesis of the corpus callosum. Other features such as blepharophimosis and a marfanoid habitus have been observed, but the specific signs can vary widely between individuals.

This syndrome is caused by mutations in the MED12 gene. It follows an X-linked pattern, meaning the gene mutation is carried on the X chromosome. This genetic change is the cause of the various symptoms observed in affected individuals.

Information about treatment 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.