Summary about Disease
Jeune syndrome, also known as asphyxiating thoracic dystrophy (ATD), is a rare genetic disorder characterized by a small, narrow chest, shortened ribs, and short limbs. This constricted rib cage can severely restrict lung development, leading to respiratory difficulties and often death in infancy or childhood. The severity of the condition varies widely, with some individuals experiencing milder skeletal abnormalities and surviving into adulthood. Other organ systems, like the kidneys, liver, and retina, can also be affected.
Symptoms
Thoracic Cage Deformities: Small, narrow chest; short, horizontal ribs. This is the hallmark of the disease.
Respiratory Problems: Difficulty breathing (dyspnea), rapid breathing (tachypnea), recurrent respiratory infections, potentially leading to respiratory failure.
Skeletal Abnormalities: Shortened limbs (particularly the arms and legs), short stature, polydactyly (extra fingers or toes).
Renal (Kidney) Problems: Nephronophthisis (a kidney disorder leading to kidney failure).
Liver Problems: Liver fibrosis.
Retinal Dystrophy: Leading to vision problems.
Other: Dental abnormalities, pancreatic insufficiency may also occur.
Causes
Jeune syndrome is caused by genetic mutations in genes involved in the development and function of cilia, which are tiny hair-like structures important for cell signaling and development. It is typically inherited in an autosomal recessive pattern. This means that an affected individual must inherit two copies of the mutated gene (one from each parent) to develop the disorder. If both parents are carriers (possessing one copy of the mutated gene), there is a 25% chance with each pregnancy that the child will inherit both mutated genes and develop Jeune syndrome. Several genes can be involved, including IFT80, DYNC2H1, IFT140, WDR19, TTC21B, IFT172, IFT43, EFCAB4A and others.
Medicine Used
There is no cure for Jeune syndrome, so treatment focuses on managing symptoms and complications.
Respiratory Support: Oxygen therapy, mechanical ventilation (if needed), chest physiotherapy.
Bronchodilators: To open airways and improve breathing.
Antibiotics: To treat respiratory infections.
Diuretics: To manage fluid buildup related to kidney problems.
Growth Hormone: In some cases, to help with growth.
Nutritional Support: Specialized formulas or feeding tubes may be needed to ensure adequate nutrition.
Kidney Transplantation: May be necessary if kidney failure develops.
Liver Transplantation: May be necessary in severe cases of Liver disease.
Is Communicable
No, Jeune syndrome is not communicable. It is a genetic disorder and cannot be spread from person to person.
Precautions
Since Jeune syndrome is genetic, there are no environmental precautions to prevent it. Genetic counseling and testing are important for families with a history of the condition, especially if planning to have children. Regular medical checkups are vital to monitor disease progression and manage any complications that arise. Preventing respiratory infections (through vaccination and hygiene practices) is crucial.
How long does an outbreak last?
Jeune syndrome is not an infectious disease, so the term "outbreak" is not applicable. It is a chronic, lifelong condition.
How is it diagnosed?
Physical Examination: Assessing the chest size, skeletal abnormalities, and other physical features.
Radiographic Studies (X-rays): To visualize the rib cage and skeletal structure, looking for short ribs, a narrow chest, and limb abnormalities.
Genetic Testing: To identify mutations in the genes known to cause Jeune syndrome. This is the definitive diagnostic test.
Prenatal Diagnosis: Can sometimes be made prenatally through ultrasound or chorionic villus sampling (CVS) or amniocentesis followed by genetic testing.
Kidney and Liver Function Tests: To assess the function of these organs.
Timeline of Symptoms
Prenatal: Short ribs, narrow chest, and shortened limbs might be detectable on prenatal ultrasound.
Newborn: Respiratory distress is often the first noticeable symptom. Skeletal abnormalities are apparent at birth.
Infancy/Childhood: Recurrent respiratory infections, growth delays, kidney or liver problems may develop over time. Retinal dystrophy can present at any age.
Progression: The severity of symptoms can vary widely, and the course of the disease depends on the specific genetic mutation and the extent of organ involvement. Some individuals die in infancy, while others survive into adulthood with varying degrees of disability.
Important Considerations
Multidisciplinary Care: Management of Jeune syndrome requires a team of specialists, including pulmonologists, geneticists, nephrologists, orthopedists, and other healthcare professionals.
Genetic Counseling: Essential for families affected by Jeune syndrome to understand the inheritance pattern, recurrence risk, and options for prenatal diagnosis.
Prognosis: Varies greatly. Respiratory complications are a major cause of morbidity and mortality. The long-term outlook depends on the severity of the skeletal abnormalities, the degree of respiratory compromise, and the presence of other organ involvement.
Research: Ongoing research is focused on understanding the genetic basis of Jeune syndrome and developing new treatments.
Family Support: Support groups and online communities can provide valuable resources and emotional support for families affected by this rare disorder.