FG syndrome 1

FG syndrome 1 is a rare genetic condition that is caused by a mutation in the MED12 gene. It is one member of the FG syndrome spectrum of disorders. Many names have been used for this syndrome, including FG syndrome type 1 and Opitz-Kaveggia syndrome. This condition is noted in medical literature due to its association with developmental differences and distinct physical features. Because FG syndrome 1 is linked to a mutation in a specific gene, understanding the genetic cause helps clinicians and researchers learn more about the wide range of features seen in people with the condition. Research and clinical reports continue to add to our understanding of how this mutation affects development.

The condition has been associated with several distinguishing features that have been noted in its synonyms. These include signs such as intellectual disability, a larger head size, congenital hypotonia (low muscle tone), an imperforate anus, and partial agenesis of the corpus callosum. Information about all the common symptoms is limited, and different reports may highlight different features.

FG syndrome 1 is caused by a mutation in the MED12 gene. This gene mutation is responsible for the development of the condition and is inherited in an X-linked pattern, meaning that it most often affects males. The role of the MED12 gene in development is key in understanding the cause of this syndrome.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.