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