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.
Reardon et al. (1990) described the first and only reported cases of Cardioskeletal Syndrome, Kuwaiti Type. The affected patients were born to a consanguineous, healthy Kuwaiti couple. The first pregnancy was a male fetus that ended in a late intrauterine death. No congenital malformations were noted. The second pregnancy resulted in a male child born at 39-weeks gestation. Ultrasound at 26-weeks gestation had noticed shortening of femora and humeri, short and broad vertebrae, and fetal bradycardia. At birth too, all limbs were short, and ECG showed gross hypoplasia of the right ventricle and tricuspid valve, a large atrial septal defect, pulmonary atresia, and a cleft mitral valve. The infant died at 2-days of age. The third pregnancy ended in a first trimester abortion. Ultrasound of the fourth pregnancy detected short limbs at 30-weeks gestation. The male child was born at term with short limbs. At 3-months of age, he was found to have a heart murmur and clinical evidence of cardiac failure, with a VSD and ASD, both of which were surgically corrected. Radiological examination revealed mild thoracolumbar kyphosis and coronal clefts extending through the dorsal and lumbar vertebrae, shortened long bones with metaphyseal flaring, broad femoral necks, and retarded bone maturation at the knee but advanced at the wrists. Karyotyping was normal in the patient and the parents. This child too died of cardiac complications.