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 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 hypoparathyroidism, severe intellectual disability and 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
Dysmorphism is most evident on the face, with the following features:- Long narrow face
- Deep-set, small eyes
- Beaked nose
- Large, floppy ears
- Small head
- Thin lips with a long philtrum
- Small jaw
Other features
Other features include:- Stunting
- Small hands and feet with long, tapering fingers and clinodactyly
- Dental anomalies in the form of malalignment and malocclusion