congenital disorder of glycosylation, type 2v

Congenital disorder of glycosylation, type 2v, also known as CDG2V, is a condition affecting the proper glycosylation of proteins, an essential cellular process. Variants in the EDEM3 gene, which is crucial for the quality control of glycoproteins, underlie this disorder. Affected individuals typically present with global developmental delay along with distinctive facial and physical features early in life. Precise prevalence estimates are not well established, and the condition is considered uncommon in the general population.

Individuals with congenital disorder of glycosylation, type 2v characteristically display abnormal protein N-linked glycosylation and global developmental delay, impacting cognitive and neurological development. Many affected children exhibit craniofacial features such as epicanthus, a bulbous nose, a short philtrum, underdeveloped nasal alae, and a thin upper lip vermilion. In addition, other features observed in some individuals include retrognathia, hypotonia, low hanging columella, narrow or downslanted palpebral fissures, wide nasal bridge, and manifestations like hydrocele testis, nasogastric tube feeding in infancy, and gastroesophageal reflux. Not all individuals experience all features, and severity varies considerably.

This condition is caused by pathogenic variants in the EDEM3 gene, which is involved in the cellular process of removing misfolded glycoproteins to ensure proper protein function. Disruption of this quality control system leads to abnormal protein glycosylation. Congenital disorder of glycosylation, type 2v follows an autosomal recessive inheritance pattern, meaning that an affected individual inherits one altered copy of the gene from each parent. Genetic counseling is recommended for families to discuss recurrence risks and planning for future pregnancies.

Currently, management focuses on supportive care and symptom management, as there are no FDA-approved treatments specifically for congenital disorder of glycosylation, type 2v. Care is tailored to the individual and generally involves a multidisciplinary team to address developmental, nutritional, and other supportive needs. Regular surveillance is an essential part of long-term care, helping to identify and manage emerging complications. Patients should discuss treatment options with their healthcare team to determine the most appropriate strategy, and genetic counseling is recommended to address familial concerns.

Outcomes for individuals with congenital disorder of glycosylation, type 2v vary widely, with the course influenced by the severity of symptoms and access to specialized care. With current supportive care strategies, many individuals achieve improvements in quality of life, although developmental challenges persist. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists familiar with this condition and to seek genetic counseling for further guidance.