Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome - A review

Eli Hershkovitz, Ruti Parvari, George A. Diaz, Rafael Gorodischer

Research output: Contribution to journalReview articlepeer-review

24 Scopus citations


Hypoparathyroidism, retardation, and dysmorphism (HRD) is a newly recognized genetic syndrome, described in patients of Arab origin. The syndrome consists of permanent congenital hypoparathyroidism, severe prenatal and postnatal growth retardation, and profound global developmental delay. The patients are susceptible to severe infections including life-threatening pneumococcal infections especially during infancy. The main dysmorphic features are microcephaly, deep-set eyes or microphthalmia, ear abnormalities, depressed nasal bridge, thin upper lip, hooked small nose, micrognathia, and small hands and feet. A single 12-bp deletion (del52-55) in the second coding exon of the tubulin cofactor E (TCFE) gene, located on the long arm of chromosome 1, is the cause of HRD among Arab patients. Early recognition and therapy of hypocalcemia is important as is daily antibiotic prophylaxis against pneumococcal infections.

Original languageEnglish
Pages (from-to)1583-1590
Number of pages8
JournalJournal of Pediatric Endocrinology and Metabolism
Issue number12
StatePublished - 1 Jan 2004


  • Growth retardation
  • Hypoparathyroidism
  • Microtubules
  • Tubulin cofactor E

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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