Middle East Syndrome

- It's also known as Sanjad Sakati Syndrome (SSS) or Hypoparathyroidism-retardation-dysmorphism syndrome (HRD).

- It's an autosomal recessive disease, associated with mutation in TBCE gene.

- Congenital hypoparathyroidism in association with growth and mental retardation and facial dysmorphism.

- It has been reported exclusively in Arab families.

- Clinical features:

• Mental and growth retardation. The weight, height and head circumference are less than -2 SD from the mean of their ages.
• Children had identical facies with deep-set eyes, depressed nasal bridge with beaked nose, long philtrum, thin upper lip, micrognathia, and large, floppy earlobes.
• History of severe intrauterine growth retardation.
• Symptoms occurred in the newborn period. The hypocalcemia was associated with hyperphosphatemia and very low concentrations of parathyroid hormone.
• No association with congenital heart diseases.

- Complication: Central hypoventilation.

Source: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD