Pediatric Jeune Syndrome

Pediatric Jeune Syndrome

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Summary

Jeune syndrome is a rare, genetic condition in which children have a narrow and short chest cavity that restricts lung expansion, making breathing difficult.

Expanded Overview

Children with Jeune syndrome, also known as asphyxiating thoracic dystrophy, experience abnormalities in the shape of their bones throughout their body.

Because of their short ribs and narrow chest, children with Jeune syndrome have a bell-shaped chest that affects their breathing. The severity of the condition varies.

Organs can also be affected by the syndrome, including kidney problems, heart defects, and possible problems with the liver and pancreas. In some cases, vision can be compromised.  

Causes

Jeune syndrome is a genetic condition that is congenital (present at birth). It is passed on if both parents carry a recessive (not dominant) gene for the syndrome.

Symptoms

Symptoms of Jeune syndrome can include:

  • Bell-shaped chest cavity
  • Extra fingers and toes
  • Measuring shorter than average in height
  • Respiratory infections and difficulties
  • Short arm and leg bones
  • Small rib cage (narrow and shorter than normal)

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