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Chapter: Medicine and surgery: Musculoskeletal system

Achondroplasia - Genetic musculoskeletal disorders

Achondroplasia is a form of osteochondroplasia in which the arms and legs are abnormally short. - Definition, Incidence, Aetiology, Pathophysiology, Clinical features, Complications, Investigations, Management, Prognosis.

Genetic musculoskeletal disorders

 

Achondroplasia

 

Definition

 

Achondroplasia is a form of osteochondroplasia in which the arms and legs are abnormally short.

 

 

Incidence

 

Commonest form of true dwarfism.

 

 

Age

 

Congenital, usually obvious by age 1.

 

 

Sex

 

= F

 

Aetiology/pathophysiology

 

Inherited in an autosomal dominant fashion, most cases however are sporadic. The genetic mutation is within the fibroblast growth factor receptor ‚ąí3 gene.

 

Clinical features

 

Disproportionate shortening of the long bones of the limbs with a normal trunk length. The head is large with a prominent forehead and a depressed bridge of the nose causing a saddle shaped nose. Intelligence is normal. There is a large lumbar lordosis, which causes prominent buttocks, flexed hips and bowed legs. A tri-dent deformity of the hands may be present.

 

Investigations

 

Skeletal survey allows accurate measurement of the long bones.

 

Management

 

Patients may develop neurological problems due to stenosis of the spinal canal; this may require surgical intervention. Leg lengthening procedures and genu varum correction may be considered.

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