Sanjad Sakati syndrome

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Sanjad Sakati syndrome (SSS) is also known as hypoparathyroidism - retardation - dysmorphism (HRD). It is a  rare autosomal recessive genetic disorder.

Epidemiology

Exclusively found in people of Arabian origin. There is an equal distribution in both sexes.

Pathology

Genetics

Gene of the syndrome is found on chromosome 1q42-q43 .

Clinical presentation

  • 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.

Differential diagnosis