Kenny-Caffey syndrome (KCS) is a rare hereditary bone dysplasia characterized by osteosclerosis with medullary stenosis of long bones with hypocalcemia and ocular abnormalities. Recurrent bacterial infections are common in patients with KCS. KCS is mostly inherited as an autosomal dominant trait. Recently, mutations in the FAM111A gene has been identified. Autosomal recessive cases have mutations in TBCE gene that encodes chaperone proteins of tubulins.
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
H00619 Kenny-Caffey 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.
