Sanjad Sakati syndrome

Last revised by Rohit Sharma on 18 Nov 2021

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.

The condition was first described by Sanjad, Sakati, and colleagues in 1988 1.

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Cases and figures

  • Case 1
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  • Case 2
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