Osteosclerotic metaphyseal dysplasia (OSMD) is a rare autosomal recessive sclerosing skeletal dysplasia characterized by osteosclerosis of the long bones (predominantly at the metaphyses) and vertebrae, ribs, clavicles, and iliac crest. Mutations in the leucine-rich repeat kinase 1 (LRRK1) gene have been found to play a role in this disease.
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
H02823 Osteosclerotic metaphyseal dysplasia
Howaldt A, Hennig AF, Rolvien T, Rossler U, Stelzer N, Knaus A, Bottger S, Zustin J, Geissler S, Oheim R, Amling M, Howaldt HP, Kornak U
Title
Adult Osteosclerotic Metaphyseal Dysplasia With Progressive Osteonecrosis of the Jaws and Abnormal Bone Resorption Pattern Due to a LRRK1 Splice Site Mutation.
Iida A, Xing W, Docx MK, Nakashima T, Wang Z, Kimizuka M, Van Hul W, Rating D, Spranger J, Ohashi H, Miyake N, Matsumoto N, Mohan S, Nishimura G, Mortier G, Ikegawa S
Title
Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity.
