Achondroplasia

Achondroplasia is a rare condition accounts for about 75% of all dwarfism and caused due to growth factor genetic mutation that is transmitted as a dominant gene. However, most cases (80%) are spontaneous mutations, and these patients are born of normal stature parents. Hypochondroplasia is milder form of dwarfism with similar genetics and different morphology compared to ahondroplasia. In achondroplasia, dwarfism is of rhizomelic disproportion (the upper limbs are short relative to the lower limbs). Children with achondroplasia usually have delayed developmental milestones, frontal bossing, midface hypoplasia (upper jaw, cheekbones, and eye sockets have not grown as much as the rest of the face), hyperlordosis of the spine (increased curvature), spinal canal stenosis, plus the more obvious limb deformities and short stature (significantly below the growth charts for most children). The average adult height for achondroplastic men at skeletal maturity is 131 cm (compared to 160 cm in men without achondroplasia) and for women is 125 cm (compared to 151 cm in women without achondroplasia). The height multipliers for achondroplastic children are completely different. In our institute, we provide a comprehensive reconstructive plan to achieve normal limb alignment and reasonable and functional height as well as restoration of proportion of the limbs to the trunk in patients with achondroplasia. The benefits of lengthening can be divided into functional (minimum length for function is 165 cm in average), psychological (better body image and self confidence), and therapeutic (better spine, joint and limb mechanics). Lengthening for stature for dwarfism is extensive and starts after age of 8 to avoid risk of growth inhibition. We follow the protocol described by Dr Paley in USA. The aim is to correct the upper and lower limb deformities while simultaneously increasing stature. Lengthening of the lower extremities can be performed on femurs and tibias. The upper extremity is lengthened via the humerus, which is lengthened separately from the leg. The plan is as follows: * 8 –10 years old: Both tibias: 4 cm, Both femurs: 6 cm, Total length gained: 10 cm * 13 years old: Both tibias: 7 cm, Both femurs: 8 cm, Total length gained: 15 cm * 14/15 years old: Both humeri: 10 cm (if undergoing 2 lengthenings of lower extremities), Both humeri: 12 cm (if undergoing 3 lengthenings of lower extremities), Total length gained: 10 cm or 12 cm * 16 years old: Both tibias: 7 cm, Both femurs: 8 cm, Total length gained: 15 cm * Total stature gain: 40 cm Professional and daily physical therapy is an integral part of the treatment program for achondroplasia. in our institute we provide this as a main during the course of treatment.


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