Carpotarsal osteochondromatosis
ORPHA:2767· ICD-10 D16.9
Definition
A rare primary bone dysplasia with disorganized development of skeletal components characterized by a dysplasia epiphysealis hemimelica, intracapsular or periarticular chondromas of the knee, extraskeletal chondromas, and osteochondromas in various combinations. Patients may present with deformity, swelling, restricted mobility and limited flexion or locking of the affected area. There have been no further descriptions in the literature since 1993.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Adult