Genetic Diseases
Musculoskeletal problems are seen in a range of genetic conditions. Presentation varies, and children may show a spectrum of severity, with some features absent in milder cases. A family history may be present.
Support is usually multidisciplinary, often involving paediatrics, genetics, orthopaedics, physiotherapy and occupational therapy, with input from other specialties depending on associated organ involvement.
Examples of genetic conditions
Children with Down syndrome may have joint laxity, hypotonia and delayed motor milestones, which can contribute to gait and functional difficulties. Ongoing assessment is important, particularly where there is pain, reduced mobility, or concern for associated inflammatory arthritis.
Mucopolysaccharidoses (autosomal recessive)
Mucopolysaccharidoses are inherited metabolic conditions that commonly affect the musculoskeletal system. Typical features include joint stiffness and contractures, although some subtypes are associated with hypermobility.
- joint contractures (or hypermobility in some forms)
- claw hand, trigger fingers and carpal tunnel syndrome
- scoliosis, kyphosis and toe walking
- delayed milestones, delayed walking and abnormal gait
Children may also have multisystem involvement, including recurrent chest or ear infections, cardiac valve disease and herniae.
Achondroplasia (autosomal dominant)
Achondroplasia is characterised by shortened limbs and short stature, often with bowing of the legs and other orthopaedic complications that may require monitoring and intervention.
Marfan syndrome (autosomal dominant)
Marfan syndrome may present with tall stature, disproportionately long limbs and fingers, and musculoskeletal features such as hypermobility and chest wall abnormalities (pectus excavatum or carinatum). It may also be associated with high arched palate and lens dislocation.
Cardiac complications are a key concern, including aortic root disease and aortic valve abnormalities, and require specialist surveillance.
Duchenne muscular dystrophy (X-linked recessive)
Duchenne muscular dystrophy primarily affects boys and typically presents with progressive proximal muscle weakness. This may lead to difficulty running, climbing stairs and rising from the floor, and children may present with a waddling gait, toe walking or frequent falls. Some children also have feeding or speech difficulties.
Haemophilia A and B (X-linked recessive)
Haemophilia may present with bleeding into joints (haemarthrosis) and soft tissue bleeds. Recurrent joint bleeds can lead to chronic pain, reduced range of movement, and joint damage, so early recognition and specialist management are important.
