Definition

What is Jeune syndrome?

Jeune syndrome which is also known by the name of asphyxiating thoracic dystrophy is an extremely rare genetic condition characterized by defects in the development of the cartilage and bones, especially in the pelvis, ribs, arms, and legs.

How common is Jeune syndrome?

Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Jeune syndrome?

Jeune syndrome is a rare condition that primarily affects the bones. People affected by this condition are typically born with skeletal abnormalities such as:

  • Small, narrow chest
  • Short ribs
  • Shortened bones of the arms and legs
  • Unusually shaped pelvis
  • Extra fingers and/or toes

Because of the chest and rib abnormalities (which lead to a characteristic “bell-shaped” chest cavity), babies with Jeune syndrome often develop life-threatening breathing difficulties. As a result, many affected people do not live past infancy or early childhood.

Less commonly, Jeune syndrome is associated with only mild breathing problems which allow for survival into adolescence or early adulthood. However, those that live past infancy may experience severe health problems of the kidney and/or heart.

Other features of Jeune syndrome include high blood pressure, liver disease, pancreatic cysts, dental abnormalities, and an eye disease called retinal dystrophy that can lead to vision loss.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you or your loved one has any signs or symptoms listed above or you have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Jeune syndrome?

In many cases, the cause of Jeune syndrome is unknown. However, changes (mutations) in several different genes (IFT80, DYNC2H1, WDR19, IFT140 and TTC21B) have been identified in some families with the condition. These genes all provide instructions for making a protein that is found in cell structures called cilia, which are microscopic, finger-like projections on the surface of cells. It is unclear how mutations that disrupt the development and maintenance of cilia lead to the signs and symptoms associated with Jeune syndrome.

Risk factors

What increases my risk for Jeune syndrome?

Jeune syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% risk to have the condition, a 50% risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Jeune syndrome diagnosed?

In some cases, a diagnosis of Jeune syndrome may be suspected before birth if characteristic signs and symptoms are present on ultrasound. After birth, Jeune syndrome is based on X-ray findings. In some families, the diagnosis can be confirmed with genetic testing.

How is Jeune syndrome treated?

The treatment of Jeune syndrome is based on the signs and symptoms present in each person. Most people with Jeune syndrome experience breathing difficulties that may become more severe over time due to multiple respiratory infections. In very severe cases, mechanical ventilation may be necessary shortly after birth and surgical interventions (i.e. chests reconstruction) may be recommended. In those who are less severely affected, respiratory infections should be aggressively managed to prevent or delay respiratory failure.

Dialysis and renal transplantation may be indicated for people with kidney problems.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Jeune syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 5, 2018 | Last Modified: February 5, 2018

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