Carpotarsal osteochondromatosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
OSTEOCHONDROMATOSIS, DOMINANT CARPOTARSAL Maroteaux-Le Merrer-Bensahel syndrome |
| Number of Symptoms | 10 |
| OrphanetNr: | 2767 |
| OMIM Id: |
127820
|
| ICD-10: |
Q74.8 |
| UMLs: |
C1300233 |
| MeSH: |
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| MedDRA: |
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| Snomed: |
389272007 |
Prevalence, inheritance and age of onset:
| Prevalence: | < 10 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Primary bone dysplasia with disorganized development of skeletal components
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
|
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(HPO:0001386) | Joint swelling | 7 / 7739 | ||||
|
|
(HPO:0001850) | Abnormality of the tarsal bones | Very frequent [Orphanet] | 40 / 7739 | |||
|
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(HPO:0005701) | Multiple enchondromatosis | Very frequent [Orphanet] | 11 / 7739 | |||
|
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(HPO:0100777) | Exostoses | 32 / 7739 | ||||
|
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(HPO:0003019) | Abnormality of the wrist | Very frequent [Orphanet] | 52 / 7739 | |||
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(OMIM) | Intracapsular or periarticular chondromas of knee | 1 / 7739 | ||||
|
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(HPO:0030431) | Osteochondroma | 2 / 7739 | ||||
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(OMIM) | Restricted joint mobility | 2 / 7739 | ||||
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(OMIM) | Dysplasia epiphysealis hemimelica | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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