Takenouchi Kosaki CDC42
Type of disease: Rare Condition or Disease
Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome.
Takenouchi-Kosaki syndrome is caused by heterozygous mutation in the CDC42 gene (116952) on chromosome 1p36.