Chromosomal and Genetic Conditions
What Is Jeune syndrome?
Jeune syndrome (joon SIN-drohm) is a rare genetic disorder that affects how a child’s cartilage and bones develop. It affects the rib cage, pelvis, arms and legs. It is present at birth (congenital).
Children with Jeune syndrome have rib cages that are smaller and narrower than usual. This can keep the child’s lungs from developing fully or expanding when the child inhales.
Jeune Syndrome in Children
Jeune syndrome affects about 1 in every 100,000 to 130,000 babies in the United States. It occurs when a child inherits the gene that causes Jeune syndrome from both parents. If a man and woman both carry this gene, each child they conceive has a one-in-four chance of having Jeune syndrome.
Jeune syndrome’s main symptoms include breathing problems, but these are not always severe. Doctors believe the lungs of children with Jeune syndrome may be able to work normally, but don’t have enough room to grow when the child is very young. The lungs may develop and breathing may improve as the child grows. This may require surgery to expand the chest and give the lungs room to grow.
Children with Jeune syndrome may develop kidney and liver problems that can lead to kidney failure. Children may also have a hard time getting enough calories because of trouble eating. A feeding tube called a gastrostomy can help supply the calories they need to grow.
Children with Jeune syndrome have a form of dwarfism. They are short in height, and their arms and legs are shorter than most people’s.
Another name for Jeune syndrome is asphyxiating thoracic dystrophy (as-FIK-see-ate-ing tho-RASS-ik DISS-troh-fee). This is part of a group of chest problems called thoracic (tho-RASS-ik) insufficiency syndrome (TIS). TIS is often caused by skeletal problems or problems with how the spine and ribs form.
Jeune Syndrome at Seattle Children’s
Few hospitals have experience with Jeune syndrome treatment because the condition is so rare. Seattle Children’s sees more children with this condition than many other hospitals because doctors from several states send patients with Jeune syndrome here for treatment.
Our treatment brings together doctors from our General and Thoracic Surgery, Orthopedics and Pulmonary and Sleep Medicine to assess your child and decide when surgery may work best for them.
We can perform surgery using many different techniques. For example, our surgeons are very experienced in using the vertical expandable prosthetic titanium rib (VEPTR). VEPTR is an adjustable device that is implanted into your child. It helps the rib cage expand to make room for the lungs.
When you come to Seattle Children’s, we connect you with a team of people — including nurses, child life specialists and social workers — who work together to care for all of your child’s needs and help your family through this experience.
To learn more about Jeune syndrome treatment at Seattle Children’s, call our General and Thoracic Surgery Department at 206-987-2794 x4.