It was first described in Saudi Arabia,[1] but has been seen in Qatari, Kuwaiti, Omani and other children from the Middle East as well as elsewhere.

The condition is characterised by a triad of growth retardation and intellectual disability, hypoparathyroidism and dysmorphism.

Typically, children with this syndrome are born low-birth-weight due to intrauterine growth retardation.

The child is stunted, often with demonstrable growth hormone deficiency and has moderate to severe intellectual disability, mainly as a consequence of repeated seizures brought on by the low blood ionic calcium levels.

The locus is a 230 kb region of gene with identified deletions and mutations in affected individuals.