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Jeune's Syndrome
Sunday, 08 August 2004
Thursday, 09 December 2004
Asphyxiating Thoracic Dystrophy

What

Jeune’s Syndrome is an inherited form of dwarfism characterized by many bone abnormalities. The most pronounced bone abnormality is in the rib cage where the ribs are broad, short, and irregularly joined to the sternum (breastbone). These children have a small, inflexible, bell-shaped chest cavity that doesn’t grow well. The reduced space inside the chest cavity interferes with the lungs ability to grow normally over time and expand in order to engage in proper breathing. Renal (kidney) and hepatic (liver) dysfunction are present in some cases.

Who

Jeune’s Syndrome is usually recognized at birth and can occur in all ethnic groups. Males and females are affected equally. Approximately 40 children per year in the United States and over 600 worldwide are affected by Jeune’s Syndrome. In the United States, the overall incidence is approximately 1 per 100,000-130,000 live births.

Signs and Symptoms

Children with Jeune’s Syndrome can have symptoms that develop as newborns or as late as 4 or 5 years of age. The following features are usually associated with the syndrome:

  • Short stature
  • Skeletal abnormalities: short ribs, and short limbs, small, narrow, bell-shaped chest
  • Increased breathing rate
  • Difficulty breathing without assistance from a breathing machine or ventilator
  • Abdominal breathing (the use of accessory muscles in the chest and neck to help children breathe during periods of distress.)
  • Cyanosis (blue discoloration of the skin due to decreased breathing and lack of oxygenation)
  • Recurrent pneumonia and other respiratory infections
  • Visual problems may be present in some cases due to deterioration of the retina (structure in the eye responsible for color)
  • Kidney disease often develops
  • Liver disease can also develop and result in a yellow discoloration to the eyes and skin (jaundice).

Possible Causes

Jeune’s Syndrome is an inherited disorder that is transmitted from parent to child through abnormal genes. The parents usually do not show signs of the disease because they are “carriers” (a carrier is a person who has one copy of the abnormal gene and one copy of the normal gene). A child with two abnormal copies of the gene will visibly express the physical abnormalities associated with Jeune’s Syndrome. During normal breathing, muscles around the ribs called intercostals muscles move the ribs outward and upward to increase the space in the chest cavity providing more space for the lungs to expand. In Jeune’s Syndrome the small, bell-shaped thoracic cavity enclosed by abnormally short ribs creates a smaller, more rigid space wherein the lungs are expected to expand. These physical abnormalities compromise the lungs ability to expand and take in air to allow for normal breathing. The specific cause has not been discovered.

Diagnosis

Jeune’s syndrome may be detected at birth or during infancy by recognizing the physical signs. It is usually recognizable at birth by the narrowness of the infant's chest and their abnormally short limbs. Imaging studies such as x-rays and prenatal ultrasounds can confirm the diagnosis: ribs are short, as well as bones in the arms and legs; and the pelvis is flattened.

Treatment

While some of the symptoms of Jeune’s can be treated non-invasively with respiratory support (supplemental oxygen and ventilators), addressing the underlying malformation of the bones in the chest through surgical reconstruction is essential to providing the child with better functioning lungs. There are two surgical methods of chest reconstruction currently used: 1. The sternum (breastbone) is removed and the ribs are reattached to the sternum by bone grafts (extra bone added in between the ribs and the sternum) or by a prosthetic metal plate. This increases the space between the sternum and the ribs essentially creating longer ribs and more space for the lungs to expand in the chest cavity. As the child grows they must return for “expansion” surgery to allow for further continuous expansion of the chest. The prosthetic metal plates are adjusted to allow for growth. This expansion surgery usually takes place every 4-6 months until the child is done growing. There are potentially 30 or more surgeries over the entire course. 2. In the other method one side of the chest cavity is expanded at a time, with each surgery separated by six months to one year. The skin, tissue, and muscles overlying the chest wall are lifted. Then ribs 4-9 are cut in a staggered fashion. The chest wall underneath the ribs is also cut in a staggered fashion (the cut resembles a zipper). The long ends of the fifth and sixth ribs are separated, realigned, and then put together to expand the diameter of the chest. This is also done with the seventh and eight ribs. The process is similar to unzipping a zipper and realigning it with the longer pieces touching each other, allowing for more space between the connections. Titanium plates hold the ribs together to stabilize the enlargement while new bone grows between the realigned ribs.

Prognosis

The prognosis for children with Jeune’s Syndrome is highly variable because there are considerable differences in the severity of the chest wall constriction and the associated symptoms. Children who undergo surgical reconstruction of the rib cage experience increased lung function, improved activities of daily living, and decreased number of hospitalizations due to respiratory problems. However, most children with Jeune’s syndrome (approximately 60-70%) die from respiratory failure in early infancy and early childhood.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Jeune’s Syndrome Information Center at Columbus Children’s Hospital
Excellent website that provides general information about Jeune’s syndrome, patient stories, published articles, links to other support services, Q & A with specialists.

Jeune’s Syndrome Family Foundation
This website provides information about the syndrome, contact information for the organization, parent support networks, and links to other related sites. The organization also provides financial assistance to families who need to travel with their child for rib expansion surgeries.

Jeune’s Syndrome Information
Site contains general information, links to other websites, research projects, and support groups.

Magic Foundation for Children’s Growth
Information on the disease and support groups.

Google Search for Jeune's Syndrome

References and Sources

Davis, T. (2004) Chest Wall Surgery for Asphyxiating Thoracic Dystrophy. Pediatric Pulmonology, Supplement 26: 136-137. Chen, H. (2004) Asphyxiating Thoracic Dystrophy (Jeune’s Syndrome) www.emedicine.com