Jeune syndrome

Common Name(s)

Jeune syndrome, Asphyxiating thoracic dystrophy

Jeune syndrome, also known as asphyxiating thoracic dystrophy, is a rare genetic condition which affects bone growth and causes breathing difficulties. It is present at birth (congenital). Symptoms of this condition may include a small chest with short ribs, abnormal pelvis shape, short arms and legs, rapid breathing, blue color of the skin due to lack of oxygen, extra fingers or toes (polydactyly), and kidney and/or liver problems. Mild short stature or height is common. The severity of the condition varies greatly. Jeune syndrome affects every 1 in 100,000 to 130,000 babies born in the United States and about 1 in 150,000 in the United Kingdom.

A doctor often recognizes the condition at birth, but confirms with X-rays. Genetic testing may also be performed although not all the involved genes are known. Known affected genes include IFT80, DYNC2H1, WDR19, and TTC21B. Depending on the severity of breathing difficulties, babies with this condition may need help from a breathing machine (ventilator). Other treatment options may include surgeries and the use of VEPTR’s (vertical expandable prosthetic titanium ribs) to gradually expand the size of the rib cage.

This condition is inherited (passed through families) in an autosomal recessive manner. Most genes come in pairs, one copy from each parent. Autosomal recessive means both copies must have the mistake or error to have symptoms. Carriers have a mistake in only one of their copies and usually do not have symptoms. A genetic counselor or specialist can help you understand the genetics of Jeune syndrome as well as more about the condition.

Although there is currently no cure for Jeune syndrome, there are various resources to help manage the condition and treat the symptoms. Since research is ongoing, it is important to talk to your child’s doctor about the most current treatment options. Support groups are also a great resource for support and information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Jeune syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Jeune syndrome" returned 15 free, full-text research articles on human participants. First 3 results:

Effective Neurally Adjusted Ventilatory Assist (NAVA) Ventilation in a Child With Jeune Syndrome.
 

Author(s): Gianluca Cosi, Giulia Genoni, Alice Monzani, Barbara Pilan, Maria Lavrano, Federica Ferrero

Journal: Pediatrics. 2016 Nov;138(5):.

 

Jeune syndrome (asphyxiating thoracic dystrophy) is a rare skeletal dysplasia mainly characterized by dystrophy of the thoracic cage. Neurally adjusted ventilatory assist (NAVA) is a respiratory support in which pressure assistance is provided in proportion to and synchronous with ...

Last Updated: 12 Dec 2016

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Hypertrophic cardiomyopathy with Jeune syndrome: The first reported case.
 

Author(s): Osman Güvenç, Saime Sündüs Uygun, Derya Çimen, Eyüp Aslan, Ali Annagür

Journal: Turk Kardiyol Dern Ars. 2016 Sep;44(6):503-6.

 

Jeune syndrome (Asphyxiating thoracic dysplasia) is a rare dystrophy of the skeleton, inherited as an autosomal recessive condition. Patients develop a narrowed thorax, rhizomelic dwarfism, and hepatic, renal, and pancreatic abnormalities. High rates of pulmonary hypoplasia and pulmonary ...

Last Updated: 26 Sep 2016

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Successful recovery from respiratory failure by external distraction sternoplasty in a patient with Jeune syndrome.
 

Author(s): Samina Park, Chang Hyun Kang, In Kyu Park, Young Tae Kim

Journal: J. Thorac. Cardiovasc. Surg.. 2015 Mar;149(3):e53-5.

 

Last Updated: 1 Apr 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Jeune syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.