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Asphyxiating thoracic dystrophy
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Asphyxiating thoracic dystrophy

Asphyxiating thoracic dystrophy, or Jeune syndrome, is an inherited bone growth disorder characterized by a narrow chest that can cause life-threatening breathing difficulties.

Overview

Also known as Jeune syndrome, this disorder is characterized by a narrow chest, short ribs, shortened limbs, short stature, and extra fingers or toes (polydactyly). The narrow, bell-shaped chest often restricts lung expansion, leading to severe breathing problems in infancy.

Symptoms

Symptoms vary in severity and may include:

  • Life-threatening respiratory distress in infancy.
  • Kidney abnormalities that may lead to failure later in life.
  • Heart defects and narrowing of the airway (subglottic stenosis).
  • Liver disease and fluid-filled sacs (cysts) in the kidneys.
  • Dental abnormalities.
  • Retinal dystrophy, which can lead to vision loss.

Causes

The condition is caused by mutations in at least 11 genes (including DYNC2H1 and IFT80) that provide instructions for proteins found in cilia. Cilia are microscopic structures on cell surfaces that are essential for signaling pathways, such as the Sonic Hedgehog pathway, which governs bone and cartilage growth. Mutations impair intraflagellar transport (IFT), disrupting cilia function and leading to the skeletal and organ abnormalities characteristic of the syndrome.

Inheritance

Asphyxiating thoracic dystrophy is inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell must have mutations for the condition to occur. Parents of an affected individual typically do not show signs of the disorder.

Frequently Asked Questions

Most infants need supplemental oxygen, CPAP, or mechanical ventilation to maintain adequate oxygenation because the narrow chest limits lung expansion. As the rib cage grows (usually by 6–12 months), clinicians gradually reduce support while monitoring blood gases and chest X‑rays. Successful weaning often coincides with improved chest wall compliance and weight gain.
Baseline renal ultrasound and serum creatinine are obtained at diagnosis, then repeated every 6–12 months. Early warning signs include rising creatinine, proteinuria on urinalysis, hypertension, or recurrent urinary tract infections. Prompt nephrology referral can allow ACE‑inhibitor therapy or other measures to slow progression.
Procedures such as rib‑spreading (vertical expandable prosthetic titanium rib, VEPTR) or thoracic wall reconstruction can increase thoracic volume and improve ventilation. Risks include infection, hardware failure, and the need for repeat surgeries as the child grows. Multidisciplinary evaluation (orthopedics, pulmonology, anesthesia) is essential before proceeding.
Jeune syndrome is autosomal recessive, so each pregnancy has a 25 % chance of an affected child, a 50 % chance of a carrier, and a 25 % chance of an unaffected non‑carrier. Carrier testing for the known gene mutations (e.g., DYNC2H1, IFT80) can be done via blood or saliva. Couples may consider pre‑implantation genetic diagnosis (PGD) with IVF or prenatal diagnostic testing (CVS/amniocentesis) if they wish to avoid an affected pregnancy.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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