Sanjad–Sakati syndrome
| Sanjad–Sakati syndrome (Middle East syndrome) | |
|---|---|
| Other names | Hypoparathyroidism–short stature–intellectual disability–seizures syndrome |
| Sanjad-Sakati syndrome is inherited in an autosomal recessive manner. | |
| Usual onset | diagnosis is clinically by features of triad of growth retardation, dysmorphic features and hypocalcemic tetany or sezures |
Sanjad–Sakati syndrome (Middle East syndrome) is a rare autosomal recessive genetic condition seen in offspring of Middle Eastern origin. It was first described in Saudi Arabia, but has been seen in Qatari, Kuwaiti, Omani and other children from the Middle East as well as elsewhere. The condition is caused by mutations or deletions in the TBCE gene of chromosome 1.
The condition is characterised by a triad of growth retardation and intellectual disability, hypoparathyroidism and dysmorphism.