Jeune's disease

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

Chronic renal failure
Retinal dystrophy leading to vision loss
Heart defects
Subglottic stenosis
Pancreatic cysts

References

↑ 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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[pmid19610081-1] 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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