What is warkany syndrome?

Warkany syndrome, also known as DiGeorge syndrome 2, is a genetic disorder that affects the development of the face, heart, and thymus gland. It is caused by a mutation or deletion in a gene called TBX1.

The typical features of Warkany syndrome include facial abnormalities such as cleft palate, small jaw, and wide-set eyes, congenital heart defects, and immune system problems due to the underdevelopment of the thymus gland. The disorder may also cause developmental delays, learning disabilities, and behavioral problems.

Warkany syndrome is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from their parents to develop the disorder. However, some cases may occur sporadically without a family history of the condition.

Treatment for Warkany syndrome depends on the specific symptoms and severity of the disorder. It may involve surgery to correct cleft palate or heart defects, immunoglobulin therapy to boost the immune system, and early intervention programs to address developmental delays and learning disabilities.