Jeune syndrome

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. Tt is unclear how mutations that disrupt the development and maintenance of cilia lead to the signs and symptoms associated with Jeune syndrome.

Last updated on 05-01-20

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.

Last updated on 05-01-20

Is Jeune syndrome inherited?

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% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.

Last updated on 05-01-20

What is the long-term outlook for people with Jeune syndrome?

The long-term outlook (prognosis) for people with Jeune syndrome varies significantly from person to person. Although affected people can live into adolescence or adulthood, many succumb to respiratory failure or infections during infancy.

The risk of severe respiratory complications decreases after 2 years of age. Renal involvement is the major prognostic factor in people who survive past infancy and early childhood.

Last updated on 05-01-20

How might Jeune syndrome be 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.

Medscape Reference's Web site offers more specific information on the treatment and management of Jeune syndrome. Please click the link to access this resource.

Last updated on 05-01-20

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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