Abnormalities of the musculoskeletal system are seen in a number of genetic conditions.
There may be a spectrum of severity and not all features may be present. There may be a family history of similar problems. Multi-professional and multi-disciplinary management is needed.
Mucopolysaccharidoses - autosomal recessive:
- Joint contractures but can also be some forms with hypermobility.
- Claw hand / trigger fingers / Carpal Tunnel syndrome.
- Scoliosis / kyphosis / toe walking.
- Delayed milestones / delayed walking / abnormal gait.
- Other systems can be affected (e.g., recurrent chest or ear infections, heart valve problems, herniae).
Achondroplasia - autosomal dominant:
- Shortened limbs and dwarfism.
- Bow legs.
Marfan's syndrome - autosomal dominant:
- Tall stature, disproportionately long limbs and fingers.
- Abnormal chest wall shape (Pectus excavatum/carinatum).
- High arched palate / prone to dislocation of the lens in the eye.
- Risk of cardiac complications (aortic dissection, aortic valve problems).
Duchenne Muscular Dystrophy - X linked recessive:
- Affects males.
- Abnormal Gait / delayed walking / eating and speech difficulties.
- Proximal muscle weakness.
- Limp and toe walking.
Haemophilias (A and B) - X linked recessive:
- Bleeding into joints / soft tissue bleeds.