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Achondroplasia

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Achondroplasia is inherited as an autosomal dominant disorder. It is diagnosed in the first years of life and affects 1 in 26,000 births; the majority of cases are sporadic.

Characteristics include disproportionate shortness of the limbs and large head, but apparently normal trunk.

Surgical manipulation of leg length may improve stature.

Reference

  1. Leiva-Gea A, Martos Lirio MF, Barreda Bonis AC, et al. Achondroplasia: Update on diagnosis, follow-up and treatment. An Pediatr (Engl Ed). 2022 Dec;97(6)

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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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