Sanjad Sakati syndrome, also known as hypoparathyroidism-intellectual disability-dysmorphism syndrome, is a rare autosomal recessive disorder.
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Epidemiology
The syndrome is almost exclusively found in people of Arab origin. There is an equal distribution in both sexes.
Clinical presentation
- hypocalcemic tetany or convulsions
- intellectual disability
- severe dysmorphic features
- severe intrauterine and postnatal growth retardation
Pathology
Genetics
The gene implicated in the syndrome is the TBCE gene located on chromosome 1q42-q43 1. The inheritance pattern is autosomal recessive 1.
History and etymology
The condition was first described by Sanjad, Sakati, and colleagues in 1988 1.
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