loading...| Preferred Name |
Camurati-Engelmann disease |
| ID |
http://www.orpha.net/ORDO/Orphanet_1328 |
| alternative_term |
Progressive diaphyseal dysplasia |
| definition |
Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1328 |
| has_age_of_onset |
Adult Adolescent Childhood |
| has_inheritance |
Autosomal dominant |
| hasDbXref |
ICD-10:Q78.3 OMIM:131300 ICD-11:LD24.1Y UMLS:C0011989 MeSH:D003966 |
| label |
Camurati-Engelmann disease |
| notation |
ORPHA:1328 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_1328 |
| prefLabel |
Camurati-Engelmann disease |
| present_in |
Worldwide AND has_point_prevalence_range : Unknown Worldwide AND has_cases/families_value : 300.0 (Case) |
| treeView | |
| subClassOf |