Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review.
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.
Hershkovitz
Eli
E
Pediatric Endocrinology Unit and Department of Developmental Molecular Genetics, Soroka Medical Center and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel. elih@bgumail.bgu.ac.il
Parvari
Ruti
R
Diaz
George A
GA
Gorodischer
Rafael
R
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D005145:Face / Q000002:abnormalities*; D019066:Facies; D006801:Humans; D007011:Hypoparathyroidism / Q000473:pathology*; D008607:Intellectual Disability / Q000473:pathology*; D013577:Syndrome