Kahrizi syndrome

Kahrizi syndrome (also known as KAHRIZI syndrome or intellectual disability-cataract-coloboma-kyphosis syndrome) is an extremely rare autosomal recessive disorder first described in consanguineous Iranian families. It is caused by homozygous mutations in the SRD5A3 gene, which encodes steroid 5-alpha-reductase type 3, an enzyme involved in protein glycosylation pathways. The condition is classified among the congenital disorders of glycosylation (CDG). The syndrome primarily affects the nervous system, eyes, and musculoskeletal system. Key clinical features include intellectual disability (ranging from moderate to severe), ocular abnormalities such as congenital cataracts and coloboma of the eye, and kyphosis or other skeletal anomalies. Affected individuals may also present with cerebellar hypoplasia, coarse facial features, and variable degrees of developmental delay. Some patients may exhibit additional features including skin abnormalities. There is currently no specific curative treatment for Kahrizi syndrome. Management is supportive and multidisciplinary, focusing on addressing individual symptoms. This includes ophthalmologic interventions such as cataract surgery, orthopedic management for kyphosis, and educational and developmental support programs for intellectual disability. Regular monitoring by a team including geneticists, ophthalmologists, neurologists, and orthopedic specialists is recommended. Genetic counseling is important for affected families, particularly those with consanguinity.

Common questions about Kahrizi syndrome