Learn About Asphyxiating Thoracic Dystrophy

What is the definition of Asphyxiating Thoracic Dystrophy?

Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). Additional skeletal abnormalities can include unusually shaped collarbones (clavicles) and pelvic bones, and and cone-shaped ends of the long bones in the arms and legs. Many 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 result, and people with asphyxiating thoracic dystrophy may live only into infancy or early childhood. However, in people who survive beyond the first few years, the narrow chest and related breathing problems can improve with age.

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What are the causes of Asphyxiating Thoracic Dystrophy?

Mutations in at least 11 genes have been found to cause asphyxiating thoracic dystrophy. Genetic changes in the IFT80 gene were the first to be associated with this condition. Later, researchers discovered that mutations in another gene, DYNC2H1, account for up to half of all cases. Mutations in other genes each cause a small percentage of cases. In total, about 70 percent of people with asphyxiating thoracic dystrophy have mutations in one of the known genes.

How prevalent is Asphyxiating Thoracic Dystrophy?

Asphyxiating thoracic dystrophy affects an estimated 1 in 100,000 to 130,000 people.

Is Asphyxiating Thoracic Dystrophy an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Who are the top Asphyxiating Thoracic Dystrophy Local Doctors?
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Hôpital Necker Enfants Malades

Imagine Institute 
Paris, FR 

Valerie Daire-Cormier is in Paris, France. Daire-Cormier is rated as an Elite expert by MediFind in the treatment of Asphyxiating Thoracic Dystrophy. She is also highly rated in 123 other conditions, according to our data. Her top areas of expertise are Asphyxiating Thoracic Dystrophy, Ellis-Van Creveld Syndrome, Chondrodystrophy, and Geleophysic Dysplasia.

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University Of Freiburg

Faculty Of Medicine And Medical Center 
Freiburg, BW, DE 

Miriam Schmidts is in Freiburg, Germany. Schmidts is rated as an Elite expert by MediFind in the treatment of Asphyxiating Thoracic Dystrophy. She is also highly rated in 30 other conditions, according to our data. Her top areas of expertise are Asphyxiating Thoracic Dystrophy, Ellis-Van Creveld Syndrome, Clouston Syndrome, and Ectodermal Dysplasias.

 
 
 
 
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Distinguished
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Université Paris Descartes, Sorbonne Paris Cité

Inserm Umr 1163, Paris Descartes Sorbonne Paris Cité University, Imagine Institute, Necker Enfants Malades Hospital 
Paris, FR 

Celine Huber is in Paris, France. Huber is rated as a Distinguished expert by MediFind in the treatment of Asphyxiating Thoracic Dystrophy. She is also highly rated in 34 other conditions, according to our data. Her top areas of expertise are Short Rib-Polydactyly Syndrome Type 1, Asphyxiating Thoracic Dystrophy, Ellis-Van Creveld Syndrome, and Chondrodystrophy.

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Who are the sources who wrote this article ?

Published Date:updated Last, May

Published By: National Institutes of Health

What are the Latest Advances for Asphyxiating Thoracic Dystrophy?
THE CASE OF JEUNE SYNDROME AMONG THE PRECARPATHIAN POPULATION.
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