Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Asphyxiating thoracic dysplasia
Introduction
Synonyms and keywords: Asphyxiating thoracic dysplasia; Jeune’s syndrome
Overview
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
Pathophysiology
Jeune’s disease is caused by mutation in IFT80 gene and inherited as an autosomal recessive disease in some families.
Symptoms
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
References
- ↑ Tüysüz B, BariÅŸ 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
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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]