The Kuwaiti Type of Cardioskeletal Syndrome is an extremely rare congenital syndrome characterized by cardiac and skeletal abnormalities. The critical clinical features of this condition are a disproportionate short stature due to rhizomelic limb shortening, and congenital heart disease, accompanied with radiological signs of coronal clefting of the vertebrae, and shortening and metaphyseal flaring of the limbs.
The only reported cases of the Kuwaiti Type of Cardioskeletal Syndrome have been two brothers born to consanguineous normal parents, making autosomal recessive inheritance a likely mode of transmission. However, the gene(s) and the molecular mechanism involved are yet to be elucidated.