Sanjad Sakati syndrome
Sanjad Sakati syndrome (SSS) is also known as hypoparathyroidism - retardation - dysmorphism (HRD). It is a rare autosomal recessive genetic disorder.
Exclusively found in people of Arabian origin. There is an equal distribution in both sexes.
Gene of the syndrome is found on chromosome 1q42-q43 .
- hypocalcemic tetany or convulsions
- mental retardation
- severe dysmorphic features
- severe intrauterine and postnatal growth retardation
History and etymology
First definitively described by Sanjad et al in 1991.
- Di George syndrome
- Kenny - Caffey syndrome
- Familial hypoparathyroidism