Melorheostosis with osteopoikilosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MSBD syndrome Mixed sclerosing bone dystrophy |
| Number of Symptoms | 6 |
| OrphanetNr: | 1879 |
| OMIM Id: |
|
| ICD-10: |
M85.8 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [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:
|
|
(HPO:0011001) | Increased bone mineral density | Very frequent [Orphanet] | 78 / 7739 | |||
|
|
(HPO:0003103) | Abnormal cortical bone morphology | Very frequent [Orphanet] | 38 / 7739 | |||
|
|
(HPO:0001031) | Subcutaneous lipoma | Occasional [Orphanet] | 112 / 7739 | |||
|
|
(HPO:0001052) | Nevus flammeus | Occasional [Orphanet] | 88 / 7739 | |||
|
|
(HPO:0000822) | Hypertension | Occasional [Orphanet] | 224 / 7739 | |||
|
|
(HPO:0001012) | Multiple lipomas | Occasional [Orphanet] | 43 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|