Abnormalities of the musculoskeletal system are seen in a number of genetic conditions (chromosomal, single gene and mitochondrial disorders). Features may present at birth (e.g., hypotonia), but often may become more apparent during childhood (e.g., hypermobility, camptodactyly).
Downs syndrome - Trisomy 21: General hypotonia, Hypermobility, Scoliosis, Inflammatory arthritis, Cervical spine instability, Hip dislocation/subluxation, Short stature.
DiGeorge syndrome - 22q11 deletion: Inflammatory arthritis, Scoliosis, Short stature, Micrognathia.
Turner’s syndrome – 46XO: Increased carrying angle at the elbows, Short stature / webbed neck, Volar deformity at the wrist, short 4th metacarpals.
Sickle cell disease - Autosomal recessive: Bone pain and painful joint swelling, Osteomyelitis and septic arthritis, Osteonecrosis.
Cystic Fibrosis - Autosomal recessive: Arthralgia, Inflammatory arthritis, Hypertrophic pulmonary osteoarthropathy (clubbing).
Mucopolysaccharidoses - Autosomal recessive: Joint contractures (often upper limb), 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, Arachnodactyly, Pectus excavatum/carinatum, Pes planus, High arched palate, Protrusio acetabulae.
Duchenne Muscular Dystrophy - X linked recessive: Abnormal Gait / delayed walking, Proximal muscle weakness, Scoliosis, Limp and toe-walking.
Hypophosphataemic or Vitamin D resistant Rickets - X linked recessive: Bow legs, Joint pain, Limp.
Haemophilias (A and B) - X linked recessive: Haemarthrosis.