What is Jeune Syndrome?
Jeune Syndrome which is also known by the name of asphyxiating thoracic dystrophy is an extremely rare genetic condition which is characterized by defects in the development of the cartilage and bones, especially in the pelvis, ribs, arms, and legs.
Children born with Jeune Syndrome tend to have shorter and more narrow than normal rib cage which results in the lungs not being able to develop fully making it tough for the child to inhale and exhale normally. It is estimated that about 1 in 100,000 children are affected by Jeune Syndrome in the United States.
It follows an autosomal recessive trait meaning that copies of the faulty gene are required from each parent for the child to develop Jeune Syndrome. The lungs in children with Jeune Syndrome may grow normally but they do not have enough space to grow due to the narrow and short rib cage which results in problems with breathing.
This problem with breathing in some cases tends to improve as the child grows or may require surgery of the rib cage so as to create space for the lungs to grow and expand normally.
Additionally, children with Jeune Syndrome may have problems with feeding and may require a feeding tube be placed. Kidney and liver dysfunction are also one of the presenting features of Jeune Syndrome. Dwarfism is also one of the features of Jeune Syndrome.
What are the Causes of Jeune Syndrome?
The root cause for the development of Jeune Syndrome is not yet known but a number of different genes are believed to be responsible for it. The mutations in genes IFT80, DYNC2H1, WDR19, IFT140 and TTC21B have been identified by researchers as to be the potential faulty genes that may be responsible for the development of Jeune Syndrome.
These genes are responsible for production of a protein found in cilia. Investigations are still on as to identify the role of cilia in the development of symptoms of Jeune Syndrome.
What are the Symptoms of Jeune Syndrome?
The classic presenting feature of Jeune Syndrome is a small and narrow rib cage which will be clearly visible. The rib cage is usually in the shape of a bell. Additionally, the child will have rapid breathing with very little expansion of the chest.
The child will also have trouble breathing due to the inability of the lungs expand fully as a result of the small rib cage which may later on lead to several lung infections. Bluish discoloration is also one of the classic presenting features of Jeune Syndrome as a result of lack of oxygen because of the lungs not being able to expand normally. Dwarfism is yet another symptom of Jeune Syndrome with abnormally short arms and legs. In some cases extra toes or fingers may also be present in children with Jeune Syndrome.
Children with Jeune Syndrome often have trouble eating to the point where a gastric tube may need to be inserted for nutritional purposes due to Jeune Syndrome.
How is Jeune Syndrome Diagnosed?
In certain instances, a prenatal ultrasound scan may alert the physicians that the baby to be born has symptoms of Jeune Syndrome due to the abnormally short and bell shaped rib cage and abnormally short arms and legs. Post the birth of the child, the following tests may be done in order to confirm the diagnosis of Jeune Syndrome. Radiological studies in the form of x-rays, CT and MRI scans to look at the size and shape of the rib cage and of the pelvis and upper and lower extremities.
Urinalysis to check the status of kidney as to whether it is functioning normally or not
Check the status of the lungs with a pulmonary function test to see whether exchange of oxygen and carbon di oxide is occurring normally or not.
Additionally genetic testing for mutation of the genes will confirmatively diagnose Jeune Syndrome.
How is Jeune Syndrome Treated?
The treatment for Jeune Syndrome requires a multidisciplinary approach for a variety of different healthcare providers including pediatricians, orthopedists, pulmonologists, thoracic surgery, nutritional consultation who can formulate a treatment plan best suited for the children with Jeune Syndrome.
The first and the foremost thing to do in treatment for babies with Jeune Syndrome is to improve the breathing ability of the child. For this, they may require either ventilator assistance in some cases or surgery in which the rib cage is expanded so that there is more room for the lungs to expand and thus the child may be able to breathe more freely.
In cases of lung infections, the child may be given antibiotics. In cases where the child has problems with feeding then a feeding tube may need to be placed for nutritional purposes as a mode of treatment for Jeune Syndrome.
