Achondroplasia is a disorder associated with the shortening of the proximal parts of the limbs (arms and thighs) and deformities in the upper limbs. The bones of affected individuals are shorter, significantly impacting their growth. Adult women typically reach an average height of 124 cm, while men reach 131 cm. Achondroplasia has characteristic symptoms, including short stature, bowing of the knees, short and disproportionate arms and legs relative to the size of the head, joint deformities, and spinal deformities. It can also present with macrocephaly (enlarged head) with frontal bossing, abnormal development of the midface, or lumbar hyperlordosis. Importantly, achondroplasia can be diagnosed based on clinical and radiological features, and its causes are genetic, associated with mutations in the FGFR3 gene.

Achondroplasia – Treatment options

Achondroplasia poses challenges in fulfilling certain social and professional roles. To improve the quality of life, we recommend surgical treatments such as limb lengthening of the lower and upper limbs and joint reconstructions. In addition to surgical interventions for achondroplasia, we also offer rehabilitation (pre- and post-operative). Contact us today! Treating achondroplasia and pediatric orthopedics are our specialties.