Familial articular hypermobility syndrome

Orpha code: 2295OMIM code: 147900

Definition

A rare genetic disease characterized by generalized joint laxity leading to recurrent dislocation of major joints, such as the hip (often with congenital hip dislocation), shoulder, elbow, or patella. Patients often experience muscle and joint pain (sometimes with effusion) and may develop degenerative joint changes at a relatively early age. Skin abnormalities are absent.

Disease data
Classification

Disease

Synonyms
Familial joint instability syndrome
EDS XI
Rodzinna luźność stawów
Zespół niestabilności stawów
Zespół rodzinnej niestabilności stawów
Familial joint laxity
Joint instability syndrome
ORPHA code
2295
OMIM code
147900
ICD10 code
Q79.6
ICD11 code
LD28.Y

No additional description.

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