Sanjad-Sakati syndrome

Sanjad-Sakati syndrome, also called Middle East syndrome, is a rare autosomal recessive genetic condition seen in children of Middle Eastern origin. It was first described in Saudi Arabia, and cases have since been reported in Qatari, Kuwaiti and Omani children and in children from other parts of the Middle East and elsewhere. The cause is mutations or deletions in the TBCE gene on chromosome 1. The condition is defined by a triad of features: growth retardation together with intellectual disability, hypoparathyroidism, and dysmorphism, meaning characteristic differences in physical appearance. Its geographic pattern, concentrated in families of one region, is typical of recessive disorders that pass through related parents.