asphyxiating thoracic dystrophy 2

Asphyxiating thoracic dystrophy 2, also known as ATD2 or IFT80 Jeune syndrome, is a form of skeletal dysplasia primarily affecting the development of the thorax. This condition is caused by pathogenic variants in the IFT80 gene, which plays a critical role in cellular processes governing skeletal and organ development. It is inherited in an autosomal recessive manner, meaning that affected individuals inherit altered copies of the gene from both parents. Due to the limited prevalence data available, the exact frequency is not well established; clinical severity can vary considerably among affected individuals.

The clinical features associated with asphyxiating thoracic dystrophy 2 can vary widely between individuals. In many cases, the condition is characterized by abnormalities in chest structure, which may impact respiratory function, particularly in infancy when the thorax is still developing. However, because detailed characteristic findings are not available in the current data, the range and severity of symptoms can differ markedly, and not all individuals experience the same challenges. That variability is common, and some individuals may have milder features while others experience more significant respiratory or skeletal complications.

Asphyxiating thoracic dystrophy 2 is caused by mutations in the IFT80 gene. The IFT80 gene is essential for proper ciliary function, which in turn is important for normal skeletal development. This condition follows an autosomal recessive inheritance pattern, meaning that a child must inherit two altered copies of the IFT80 gene—one from each parent—to manifest the disorder. Consequently, parents of affected individuals are typically asymptomatic carriers, and there is a 25% recurrence risk with each pregnancy when both parents are carriers.

Currently, management focuses on supportive care and symptom management tailored to the individual’s needs. Since there are no FDA-approved treatments specific to this condition, care typically involves a multidisciplinary team that may include respiratory therapists, orthopedic specialists, and genetic counselors. Regular monitoring of respiratory function and skeletal development is important, and patients are encouraged to discuss potential treatment options with their healthcare team to address any complications as early as possible.

Outcomes for individuals with asphyxiating thoracic dystrophy 2 vary depending on the severity of clinical manifestations, age at diagnosis, and access to specialized care. With current standards of care, many individuals are able to achieve a good quality of life, although symptoms can range from mild to more severe forms involving respiratory challenges. Severity and symptoms vary widely between individuals. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists familiar with this condition and benefit from genetic counseling to understand inheritance patterns and plan for the future.