loading...| Preferred Name |
Bruck syndrome |
|
| Synonyms |
Osteogenesis imperfecta-congenital joint contractures syndrome |
|
| Definitions |
Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_2771 |
|
| alternative_term |
Osteogenesis imperfecta-congenital joint contractures syndrome |
|
| definition |
Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2771 |
|
| has_age_of_onset |
Childhood Infancy Neonatal |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
MedDRA:10063718 UMLS:C0432253 OMIM:609220 ICD-10:M21.8 ICD-11:LD24.KY OMIM:259450 |
|
| label |
Bruck syndrome |
|
| notation |
ORPHA:2771 |
|
| part_of | ||
| prefixIRI |
ORDO:Orphanet_2771 |
|
| prefLabel |
Bruck syndrome |
|
| present_in |
Worldwide AND has_cases/families_value : 60.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
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| treeView | ||
| subClassOf |