GTR Home > Conditions/Phenotypes > Jeune thoracic dystrophy


Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a small chest, short ribs, and shortened bones in the arms and legs. Additional skeletal abnormalities can include unusually shaped pelvic bones and extra fingers and/or toes (polydactyly). Infants with this condition are born with an extremely narrow, bell-shaped chest that can restrict the growth and expansion of the lungs. Life-threatening problems with breathing often result, and most people with asphyxiating thoracic dystrophy live only into infancy or early childhood. Some people with asphyxiating thoracic dystrophy experience only mild breathing difficulties, such as rapid breathing or shortness of breath. These individuals may live into adolescence or adulthood. After infancy, people with this condition often develop life-threatening kidney (renal) abnormalities that cause the kidneys to malfunction or fail. Heart defects and a narrowing of the airway (subglottic stenosis) are also possible. Other, less ... common features of asphyxiating thoracic dystrophy include liver disease, pancreatic cysts, dental abnormalities, and an eye disease called retinal dystrophy that can lead to vision loss. [from GHR] more

Available tests

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Clinical features

  • Proteinuria
  • Short stature
  • Respiratory insufficiency
  • Fibular hypoplasia
  • Irregular epiphyses
  • Hypoplastic iliac wings
  • Pulmonary hypoplasia
  • Conjugated hyperbilirubinemia
  • Pancreatic cysts
  • Metaphyseal irregularity
  • Recurrent respiratory infections
  • Renal cyst
  • Renal insufficiency
  • Retinal degeneration
  • Short ribs
  • Narrow chest
  • Horizontal ribs
  • Jaundice
  • Hand polydactyly
  • Hepatic fibrosis
  • Bile duct proliferation
  • Foot polydactyly
  • Hypoplasia of the ulna
  • Polycystic liver disease
  • Early ossification of capital femoral epiphyses
  • Hypoplastic pelvis
  • Short phalanx of finger
  • Cone-shaped epiphyses of the phalanges of the hand
  • Pulmonary insufficiency
  • Pancreatic fibrosis
  • Chronic kidney disease
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