Jeune syndrome (asphyxiating thoracic dystrophy - ATD)
Jeune syndrome or asphyxiating thoracic dystrophy (ATD) is a rare, genetic condition in which children have a narrow and short chest cavity that restricts lung expansion, making breathing difficult.
What is Jeune syndrome (asphyxiating thoracic dystrophy - ATD)?
Children with Jeune syndrome, also known as asphyxiating thoracic dystrophy (ATD), 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.
What are the signs and symptoms of Jeune syndrome (asphyxiating thoracic dystrophy - ATD)?
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)
How is Jeune syndrome (asphyxiating thoracic dystrophy - ATD) diagnosed?
This is typically diagnoised shortly after birth. However, it can be diagnoised during a prenatal ultrasound.
What are the causes of Jeune syndrome (asphyxiating thoracic dystrophy - ATD)?
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.