Achondroplasia

Achondroplasia

Achondroplasia is the most common form of skeletal Dysplasia. Incidence: 1 in 30000 to 1 in 50000.

Autosomal dominant but 80% of patients with achondroplasia have the disorder as the result of a spontaneous mutation

The risk of having a child with achondroplasia increased with increasing paternal age.

FGFR3 receptor is involved

Clinical Features

– Short stature, disproportionate and rhizomelic

– Facial appearance: frontal bossing and mid face hypoplasia

– Fingertip reach only to the top of the greater trochanter

– Trident Hand

– Flexion contracture elbow, radial head subluxation

– Kyphosis at thoracolumber junction, increased lumber lordosis

– ligament laxity in knee and ankle

– Genu Varum and internal tibial torsion

– Jounts and its cartilage are normal

– Normal intelligence

Orthopaedics Considerations

  • Craniocervical stenosis
  • Thoraco-Lumber Kyphosis
  • Spinal stenosis
  • Angular Deformity of knee
  • Short stature