SSR4-congenital disorder of glycosylation

SSR4-congenital disorder of glycosylation is a rare inherited condition that affects the process of glycosylation, which is important for the proper function of proteins in the body. People with this condition often experience a range of challenges that can affect their neurological development and physical appearance. The condition is characterized by global developmental delays in language, social skills, and motor skills. It also includes neurological issues such as intellectual disability, hypotonia (low muscle tone), microcephaly (small head size), and seizures or epilepsy. In addition, individuals may have distinct facial features such as deep set eyes, large ears, a hypoplastic vermillion of the upper lip, and a large mouth with widely spaced teeth. Other features can include feeding difficulties, gastrointestinal issues like reflux or vomiting, failure to thrive, and strabismus (misalignment of the eyes).

Common symptoms include global developmental delays, difficulties with language, social and motor skills, intellectual disability, hypotonia, microcephaly, and seizures or epilepsy. Additional signs include distinctive facial features (deep set eyes, large ears, and other facial dysmorphisms), feeding problems, gastrointestinal issues such as reflux or vomiting, failure to thrive, and strabismus.

The condition is caused by mutations in the SSR4 gene, which is located on the Xq28 region of the X chromosome. This genetic change disrupts the process of N-linked glycosylation, an important cellular mechanism, and leads to the range of symptoms observed in this disorder.

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.