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Familial joint laxity in short
- 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 might develop early-onset joint degeneration.
- No skin manifestations are present.
Synonyms:
- Familial joint instability syndrome
- Joint instability syndrome
Prevalence: Unknown
Inheritance: Autosomal dominant
Age of onset: Adolescent, Childhood, Infancy
What are the symptoms of Familial joint laxity?
Very Frequent Symptoms
- Congenital hip dislocation
- Joint hypermobility
- Patellar dislocation
Frequent Symptoms
- Abnormality of the knee
Occasional Symptoms
- Abnormality of femur morphology
- Abnormality of the elbow
- Inguinal hernia
- Shoulder dislocation