This website uses cookies to give you the best experience. By continuing to use this website you are consenting to cookies being used. You can delete and block cookies from within your browsers settings. For more information please refer to our privacy and cookie policy page.

Continue

Genetic conditions

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.

Site Statistics

To date (end of November 2018) pmm has >392,000 hits and >146,000 users from 205 countries!

Why register?

Some parts of pmm which involve pictures or videos of children, can only be viewed by registered users. Registering also allows you to bookmark favourite pages and track your viewing.

find out more

Short online courses

from Newcastle University, UK

e-resources from PMM

pmm for you

Please help us ensure pmm is as useful to you as possible by completing this short survey

complete survey