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Familial hyperextensible proximal interphalangeal joints
1Department of Pediatrics, Yamaguchi University School of Medicine, Japan.
The Japanese Journal of Human Genetics
|March 1, 1994
Summary
This study identified joint hypermobility in a Japanese family across three generations. The condition, characterized by hyperextensible proximal interphalangeal joints, suggests an autosomal or X-linked dominant inheritance pattern.
Area of Science:
- Genetics
- Orthopedics
- Human Anatomy
Background:
- Joint hypermobility, specifically affecting the proximal interphalangeal joints (PIPJ), can manifest in various inherited conditions.
- Understanding the inheritance patterns of such conditions is crucial for genetic counseling and diagnosis.
Observation:
- A Japanese family across three generations exhibited PIJ hyperextensibility.
- The proposita, a 14-year-old female, presented with PIJ hyperextensibility in multiple fingers, leading to a "swan-neck" deformity during extension.
- Affected individuals were asymptomatic with no associated skin abnormalities.
Findings:
- The trait was observed in 9 individuals (3 males, 6 females).
- Pedigree analysis revealed no male-to-male transmission.
- The inheritance pattern is consistent with either an autosomal dominant or X-linked dominant trait.
Implications:
- This finding contributes to the understanding of hereditary joint hypermobility disorders.
- Further research may elucidate the specific gene(s) responsible for this PIJ hyperextensibility.
- Identifying the mode of inheritance aids in predicting recurrence risk in affected families.