Melorheostosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MEL |
| Number of Symptoms | 27 |
| OrphanetNr: | 2485 |
| OMIM Id: |
155950
|
| ICD-10: |
Q78.2 |
| UMLs: |
C0025239 |
| MeSH: |
D008557 |
| MedDRA: |
10050284 |
| Snomed: |
44697002 |
Prevalence, inheritance and age of onset:
| Prevalence: | 300 cases [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Osteopetrosis
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
|
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(HPO:0006824) | Cranial nerve paralysis | Very frequent [Orphanet] | 81 / 7739 | |||
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(HPO:0002653) | Bone pain | Very frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0003034) | Diaphyseal sclerosis | 10 / 7739 | ||||
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(HPO:0100774) | Hyperostosis | Very frequent [Orphanet] | 17 / 7739 | |||
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(HPO:0002817) | Abnormality of the upper limb | Frequent [Orphanet] | 25 / 7739 | |||
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(HPO:0000924) | Abnormality of the skeletal system | Very frequent [Orphanet] | 114 / 7739 | |||
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(HPO:0002652) | Skeletal dysplasia | Very frequent [Orphanet] | 113 / 7739 | |||
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(HPO:0100769) | Synovitis | Occasional [Orphanet] | 86 / 7739 | |||
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(HPO:0100249) | Calcification of muscles | Very frequent [Orphanet] | 4 / 7739 | |||
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(HPO:0005059) | Arthralgia/arthritis | Very frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0100559) | Lower limb asymmetry | Frequent [Orphanet] | 30 / 7739 | |||
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(HPO:0011001) | Increased bone mineral density | Very frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0001387) | Joint stiffness | Very frequent [Orphanet] | 322 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0000987) | Atypical scarring of skin | Occasional [Orphanet] | 58 / 7739 | |||
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(HPO:0001052) | Nevus flammeus | Occasional [Orphanet] | 88 / 7739 | |||
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(HPO:0001072) | Thickened skin | Occasional [Orphanet] | 87 / 7739 | |||
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(HPO:0100784) | Peripheral arteriovenous fistula | Occasional [Orphanet] | 9 / 7739 | |||
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(HPO:0001004) | Lymphedema | Very frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0003202) | Skeletal muscle atrophy | Very frequent [Orphanet] | 281 / 7739 | |||
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(MedDRA:10050284) | Melorheostosis | 1 / 7739 | ||||
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(OMIM) | Flowing hyperostosis of bone cortex | 1 / 7739 | ||||
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(OMIM) | Sclerotic soft tissue over affected bones | 1 / 7739 | ||||
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(HPO:0003676) | Progressive disorder | 148 / 7739 | ||||
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(OMIM) | Skin atrophy over affected bones | 1 / 7739 | ||||
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(OMIM) | Flexion deformities over affected bones | 1 / 7739 | ||||
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(OMIM) | Contractures over affected bones | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Melorheostosis (MEL) is characterized by 'flowing' hyperostosis of the cortex of tubular bones. The lesions are usually asymmetric and involve only 1 limb or correspond to a particular sclerotome. They may be accompanied by abnormalities of adjacent soft ... |
| Clinical Description OMIM |
Fryns et al. (1980) reported a 3-year-old girl with clinical and radiologic findings of melorheostosis involving the left lower limb and associated with scleroderma of the overlying soft tissue. Subsequently, at age 17 years, she was admitted to ... |
| Molecular genetics OMIM |
- Exclusion Studies Mumm et al. (2007) did not identify germline mutations in the LEMD3 gene (607844) in any of 4 unrelated patients with sporadic isolated melorheostosis. Zhang et al. (2009) did not identify germline or ... |