loading...| Preferred Name |
Melorheostosis with osteopoikilosis |
|
| Synonyms |
MSBD syndrome |
|
| Definitions |
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_1879 |
|
| alternative_term |
MSBD syndrome Mixed sclerosing bone dystrophy |
|
| definition |
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1879 |
|
| has_age_of_onset |
All ages |
|
| has_inheritance |
Autosomal dominant |
|
| hasDbXref |
UMLS:C3149695 MeSH:C563593 ICD-10:M85.8 ICD-11:LD24.1Y OMIM:166700 |
|
| label |
Melorheostosis with osteopoikilosis |
|
| notation |
ORPHA:1879 |
|
| part_of | ||
| prefixIRI |
ORDO:Orphanet_1879 |
|
| prefLabel |
Melorheostosis with osteopoikilosis |
|
| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 5.0 (Family) |
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| treeView | ||
| subClassOf |