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Hypoparathyroidism-retardation-dysmorphism syndrome

Definition:

Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome is an autosomal recessively inherited condition reported in patients of Middle Eastern origin. It is characterized by permanent congenital hypocalcemia associated with hypoparathyroidism, prenatal and postnatal growth retardation, seizures, and facial anomalies. The dysmorphic features include deep-set eyes, depressed nasal bridge, thin upper lip, and ear anomalies.

References:

[1]. Khalil Al Tawil, et al. Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome in triplets. Am J Med Genet A. 2005 Jun 1;135(2):200-1. [Content Brief]

[2]. Ruti Parvari, et al. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat Genet. 2002 Nov;32(3):448-52. [Content Brief]

[3]. Winnie Courtens, et al. Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review. Am J Med Genet A. 2006 Mar 15;140(6):611-7. [Content Brief]

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