metachondromatosis

info · Genetic

An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.13.

Signs and symptoms

Multiple exostoses
Multiple enchondromatosis
Multiple digital exostoses
Bowing of the long bones
Abnormal joint morphology
Downslanted palpebral fissures
Hypertelorism
Webbed neck
Pulmonic stenosis
Posteriorly rotated ears

Also known as: METCDS