Journal of Interdisciplinary Genomics

Interdisciplinary Society of Genetic & Genomic Medicine (유전의학융합회)
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Campomelic dysplasia: A review of a rare lethal genetic disorder

  • Kim, Young A (Department of Pediatrics, Pusan National University Children's Hospital)
  • Received : 2021.08.04
  • Accepted : 2021.09.27
  • Published : 2021.10.31
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Abstract

Campomelic dysplasia (CD) is a rare genetic disorder characterized by multiple skeletal anomalies and the abnormal development of male reproductive organs. To date, the SOX9 gene is the only known causal gene for CD, and approximately 90 causative mutations in SOX9 have been identified worldwide. CD is diagnosed based on clinical characteristics of skeletal dysplasia (e.g., short bowed long bones, kyphoscoliosis, bell-shaped thoracic cage with 11 pairs of ribs, and hypoplastic scapulars), typical facial features of Pierre Robin sequence with cleft palate, and gonadal dysgenesis in 46,XY individuals. Most patients with CD exhibit life-threatening respiratory failure owing to laryngotracheomalacia and hypoplastic thorax during the neonatal period. Although fatal complications decrease after infancy, several medical conditions continue to require proper management. A better understanding of this rare but lethal condition may lead to more appropriate treatments for patients.

Keywords

Acknowledgement

This work was supported by a 2019 clinical research grant from the Interdisciplinary Society of Genetic & Genomic Medicine.

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