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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H00622 Hypoparathyroidism-retardation-dysmorphism syndrome
Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, Zecic A, Mortier G, Gregory S, Sharony R, Kambouris M, Sakati N, Meyer BF, Al Aqeel AI, Al Humaidan AK, Al Zanhrani F, Al Swaid A, Al Othman J, Diaz GA, Weiner R, Khan KT, Gordon R, Gelb BD
Title
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
