Sanjad-Sakati syndrome


Sanjad-Sakati 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 No.1.
The condition is characterised by a triad of growth retardation and intellectual disability, hypoparathyroidism and dysmorphism.

Presentation

Children with the Sanjad Sakati syndrome have a triad of:
a) hypoparathyroidism severe intellectual disability and
c) dysmorphism.
Typically, children with this syndrome are born low-birth-weight due to intrauterine growth retardation. At birth, there is dysmorphism, which is later typified into the features described below. 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 immuno-reactive parathormone levels are low to undetectable, with low calcium and high phosphate levels in the blood.
Dysmorphism is most evident on the face, with the following features:
Other features include:
In another study of six patients, there were low levels of IGF-1 and markedly retarded bone age.

Genetics

This disorder is caused by an abnormality of the TBCE gene, the locus for which is on Chromosome 1q42.3. The locus is a 230 kb region of gene with identified deletions and mutations in affected individuals. There are rare cases of the disorder not being due to a TBCE gene abnormality.

Diagnosis

Management

Management is mainly supportive by controlling seizures and blood calcium levels.

History

First reported from Saudi Arabia in 1988, Sanjad-Sakati syndrome, also known as Hypoparathyroidism-Retardation-Dysmorphism syndrome, or less commonly as the Middle East syndrome, is a very rare genetically inherited disorder seen in the Middle East and children of Middle Eastern origin elsewhere in the world. The condition is named after Sami A. Sanjad and Nadia Awni Sakati.