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Start free with EleplanCarpotarsal osteochondromatosis
ORPHA:2767Malformation syndrome
Also called Maroteaux-Le Merrer-Bensahel syndrome
What it is
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.
Key facts
- Prevalence
- <1 / 1 000 000 (Europe)
- Age of onset
- Adult
- Inheritance
- Autosomal dominant
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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