Genetic musculoskeletal disorders
Achondroplasia is a form of osteochondroplasia in which the arms and legs are abnormally short.
Commonest form of true dwarfism.
Congenital, usually obvious by age 1.
M = F
Inherited in an autosomal dominant fashion, most cases however are sporadic. The genetic mutation is within the fibroblast growth factor receptor ‚ąí3 gene.
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.
Skeletal survey allows accurate measurement of the long bones.
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.