Also known as: spondylocostal dysplasia, Jeune syndrome, asphyxiating thoracic dystrophy, asphyxiating thoracic dysplasia.
What is Jeune’s syndrome?
Jeune’s syndrome is often caused by a genetic abnormality with autosomal recessive inheritance.
What are the symptoms of Jeune’s syndrome?
A small chest, short ribs, arm and leg bones and extra fingers and toes are common symptoms of Jeune’s syndrome. Breathing problems, high blood pressure, liver problems and other issues can also occur.
What are Jeune’s syndrome care options?
There is no cure for Jeune’s syndrome. Treatment is focused on treatments and therapies that allow patients to live the best life possible with the disease. Breathing treatments are often needed.
Reviewed by: Parul B Jayakar, MD
This page was last updated on: 6/22/2018 1:09:33 PM
From the Newsdesk
Nicklaus Children's Hospital will be one of a handful in the country to offer a fast turn-around on genome sequencing that can be a key to saving infants with rare and hard-to-diagnose genetic disorders. As seen on The Miami Herald.
Enzymes are particularly important in the processing of medicines and drugs. They determine how our bodies are going to handle the medicines we take, and if those medicines are going to help us feel better or not. This research study includes testing the status of the CYP2D6 gene in children.