Sanjad Sakati syndrome
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At the time the article was created Yusra Sheikh had no recorded disclosures.View Yusra Sheikh's current disclosures
At the time the article was last revised Rohit Sharma had no recorded disclosures.View Rohit Sharma's current disclosures
Sanjad Sakati syndrome, also known as hypoparathyroidism-intellectual disability-dysmorphism syndrome, is a rare autosomal recessive disorder.
The syndrome is almost exclusively found in people of Arab origin. There is an equal distribution in both sexes.
- hypocalcemic tetany or convulsions
- intellectual disability
- severe dysmorphic features
- severe intrauterine and postnatal growth retardation
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.