Jeune's disease

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Jeune's disease

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]

Synonyms and keywords: Asphyxiating thoracic dysplasia; Jeune's syndrome

Overview

Jeune's disease is a familial asphyxiating thoracic dystrophy characterized by small thorax and short limb dwarfism, restricting the growth and expansion of the lungs often causing life threatening complications.[1]

Pathophysiology

Jeune's disease is caused by mutation in IFT80 gene and inherited as an autosomal recessive disease in some families.

Symptoms

  • Small thorax causing difficulty breathing
  • Shortening of limbs
  • Polydactyly
  • Unusually shaped pelvic bones

Other features

References

  1. Tüysüz B, Bariş S, Aksoy F, Madazli R, Ungür S, Sever L (2009). "Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients". Am. J. Med. Genet. A. 149A (8): 1727–33. doi:10.1002/ajmg.a.32962. PMID 19610081. Unknown parameter |month= ignored (help)

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