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.