TMEM165-congenital disorder of glycosylation

TMEM165-congenital disorder of glycosylation (TMEM165-CDG) is a rare inherited condition that is part of the family of congenital disorders of glycosylation. This condition is characterized by problems in the process of glycosylation, where sugars are added to proteins. The disorder affects many parts of the body, leading to a mixture of developmental and skeletal challenges. People with TMEM165-CDG often experience delays in motor skills, unique facial features, and marked skeletal abnormalities. The skeletal involvement may include chest and spine issues such as pectus carinatum, dorsolumbar kyphosis, and scoliosis. Additionally, there are noticeable features in the face including midface hypoplasia, low-set ears, and a high arched palate. Other aspects of the condition may include kidney issues, heart defects, and difficulties with feeding. These combined features make TMEM165-CDG a complex condition that requires careful medical assessment.

People with TMEM165-CDG may experience psychomotor delays, meaning that physical and mental development can be slower. They often show postnatal growth deficiency along with distinct skeletal abnormalities such as abnormal curvature of the spine (sinistroconvex scoliosis), chest deformities (pectus carinatum), and other bone irregularities. Additionally, facial features like midface hypoplasia, low-set ears, a high arched palate, and small teeth are seen. There can also be signs of kidney problems and heart defects.

TMEM165-CDG is caused by mutations in the TMEM165 gene, which is located on chromosome 4q12. This gene plays an important role in the process of glycosylation, where carbohydrates (sugars) are attached to proteins. When mutations occur in this gene, the process of adding sugars to proteins is disturbed, leading to the features seen in this condition.

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.