loading...| Preferred Name |
Multiple epiphyseal dysplasia |
| ID |
http://www.orpha.net/ORDO/Orphanet_251 |
| alternative_term |
MED EDM Polyepiphyseal dysplasia |
| definition |
A rare group of primary bone dysplasia disorders characterized by the association of epiphyseal anomalies of long bones causing joint pain early in life, recurrent osteochondritis and early arthrosis. This group contains an heterogeneous group of diseases with variable expression. Common reported clinical signs include waddling gait and pain at onset, and moderate short stature. Some forms are mainly limited to the femoral epiphyses, while several other syndromes are characterized by the association of multiple epiphyseal dysplasia with other clinical manifestations such as myopia, deafness and facial dysmorphism. Diagnosis relies on identification of the radiological features. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251 |
| has_age_of_onset |
Neonatal Infancy |
| has_inheritance |
Autosomal recessive Autosomal dominant |
| hasDbXref |
MedDRA:10028197 ICD-11:LD24.61 UMLS:C0026760 |
| label |
Multiple epiphyseal dysplasia |
| notation |
ORPHA:251 Clinical group |
| prefixIRI |
ORDO:Orphanet_251 |
| prefLabel |
Multiple epiphyseal dysplasia |
| present_in |
Europe AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000 |
| subClassOf |