Asphyxiating thoracic dystrophy (Jeune Syndrome) is a rare genetic disorder that affects the development of the chest and abdomen. It is characterized by a narrow chest cavity, short ribs, and a protruding abdomen. This condition can lead to respiratory and digestive problems, as well as other complications. It is caused by a mutation in the IFT80 gene. Treatment typically involves surgery to correct the chest and abdomen deformities, as well as medications to help manage symptoms.

The symptoms of Asphyxiating Thoracic Dystrophy (Jeune Syndrome) vary from person to person, but may include:

-Short stature
-Narrow chest
-Abnormal rib cage shape
-Abnormal vertebrae
-Abnormal heart and lung development
-Kidney and liver abnormalities
-Abnormal facial features
-Intellectual disability
-Delayed motor development
-Hearing loss
-Vision problems
-Gastrointestinal problems
-Seizures
-Scoliosis

Asphyxiating thoracic dystrophy (Jeune Syndrome) is a rare genetic disorder caused by mutations in the IFT80, IFT140, and IFT172 genes. These mutations cause a defect in the cilia, which are tiny hair-like structures that line the airways and help to move mucus and other particles out of the lungs. This defect can lead to a variety of respiratory problems, including difficulty breathing, recurrent infections, and an increased risk of developing pneumonia. Other symptoms may include short stature, skeletal abnormalities, and kidney problems.

The treatment for Asphyxiating Thoracic Dystrophy (Jeune Syndrome) is primarily supportive. This includes physical therapy to help maintain mobility, respiratory support to help with breathing, and nutritional support to help with growth and development. Surgery may be necessary to correct any skeletal deformities or to help with breathing. In some cases, a tracheostomy may be necessary to help with breathing. Genetic counseling may also be recommended to help families understand the condition and its implications.

1. Autosomal recessive inheritance
2. Mutations in the IFT80 gene
3. Abnormalities in the rib cage
4. Abnormalities in the lungs
5. Abnormalities in the heart
6. Abnormalities in the kidneys
7. Abnormalities in the pancreas
8. Abnormalities in the liver
9. Abnormalities in the intestines
10. Abnormalities in the spleen
11. Abnormalities in the urinary tract
12. Abnormalities in the reproductive system
13. Abnormalities in the skeletal system
14. Abnormalities in the nervous system
15. Abnormalities in the immune system
16. Abnormalities in the endocrine system
17. Abnormalities in the blood vessels
18. Abnormalities in

At this time, there is no known cure for Asphyxiating Thoracic Dystrophy (Jeune Syndrome). Treatment focuses on managing the symptoms and complications of the condition. This may include medications to help with breathing, physical therapy, and surgery to correct any skeletal abnormalities.