ACHONDROPLASIA

• Achondroplasia is an autosomal dominant genetic abnormality.
• It is the most common form of dwarfism.
• It has abnormality in limb length with enlarged head.
• According to the autosomal dominant inheritance pattern the chances of having an unaffected baby is 25%.

Pathology–

• Caused due to fibroblast growth factor receptor 3 (FGFR3) which inhibits growth plate chondrocytes.
• Length of long bones stunded
• Effects all bones developed by endochondral ossification.

Clinical features-

• Classic achondroplastic dwarfism-

1. Short limbs
2. Normal trunk
3. Enlarged head
4. Flattened root of the nose

• Bow legged appearance

Investigations-

• Radiograph shows short tubular bone with wide metaphysic.
• Trident hand is seen.
• Champagne glass pelvis appearance.

Treatment-

• Corrective osteotomies- joint alignment
• Limb lengthening surgery
• Surgical decompression

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