Jeune Syndrome, also known as asphyxiating thoracic dystrophy, is primarily categorized into two types: Jeune Syndrome Type 1 and Jeune Syndrome Type 2. These types are differentiated based on the specific genetic mutations involved.
Jeune Syndrome Type 1
This type is caused by mutations in the IFT80 gene, which plays a role in the development and function of cilia, the tiny hair-like structures found on the surface of cells. Individuals with Jeune Syndrome Type 1 typically have a more severe form of the condition, with more pronounced skeletal abnormalities and respiratory difficulties.
Jeune Syndrome Type 2
This type is caused by mutations in the IFT140 gene, also involved in cilia function. Individuals with Jeune Syndrome Type 2 may have milder skeletal abnormalities and respiratory symptoms compared to Type 1. However, they may still experience significant health challenges and require medical intervention to manage their condition.
Jeune Syndrome, or asphyxiating thoracic dystrophy, can present with a range of symptoms that primarily affect the skeletal and respiratory systems. While the severity and specific symptoms can vary from person to person, here are some common manifestations of the condition:
- Skeletal abnormalities: One of the hallmark features of Jeune Syndrome is a narrow chest, characterized by short ribs and a small rib cage. This can lead to a bell-shaped chest appearance. Additionally, individuals may have shortened limbs and a small stature.
- Respiratory difficulties: The abnormal chest structure in Jeune Syndrome can restrict lung development and lead to breathing difficulties. This can result in rapid or shallow breathing, shortness of breath, and an increased susceptibility to respiratory infections. In severe cases, respiratory support, such as the use of a ventilator, may be necessary.
- Vision problems: Some individuals with Jeune Syndrome may experience eye abnormalities, including nearsightedness (myopia), astigmatism, or other vision impairments. Regular eye examinations are important for monitoring and addressing any visual issues.
- Kidney abnormalities: Certain individuals with Jeune Syndrome may have kidney problems, such as impaired kidney function or structural abnormalities. These issues may require monitoring and potential intervention.
- Other possible features: While less common, Jeune Syndrome can also be associated with additional complications, such as liver abnormalities, heart defects, and developmental delays.