Asphyxiating Thoracic Dysplasia

Human disease
asphyxiating thoracic dystrophy
Jeune syndrome
short-rib thoracic dysplasia with or without polydactyly
thoracic pelvic phalangeal dystrophy
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Asphyxiating thoracic dysplasia (ATD), also known as Jeune syndrome, is a rare inherited bone growth disorder that primarily affects the thoracic region. It was first described in 1955 by the French pediatrician Mathis Jeune. 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. People who are affected with this disorder live short lives either only into infancy or early childhood. 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  IFT80, DYNC2H1, WDR19, IFT140 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.
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Jeune syndrome
Jeune's syndrome
Asphyxiating thoracic dysplasia 3
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