Jeune Syndrome

Asphyxiating thoracic dysplasia (ATD), also known as Jeune syndrome, is a rare inherited bone growth disorder (autosomal recessive skeletal dysplasia) [1]that primarily affects the thoracic region. It was first described in 1955 by the French pediatrician Mathis Jeune.[2] Common signs and symptoms can include a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). The restricted growth and expansion of the lungs caused by this disorder results in life-threatening breathing difficulties; occurring in 1 in every 100,000-130,000 live births in the United States.[3][4]

People who are affected with this disorder live short lives either only into infancy or early childhood.[2] If they live beyond childhood, breathing problems can improve with age, but there is a possibility of developing severe kidney or heart problems. Several mutations in different genes such as  IFT80DYNC2H1WDR19IFT140 and TTC21B have been identified in some families with the condition as possible causes of the disorder. Treatment is based on the signs and symptoms present in each person.[5]

Source

We will be adding more information in the future. Have questions or looking for guidance regarding a life-limiting diagnosis? Contact us here.

Glossary Quick Search