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 restriction
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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