Asphyxiating thoracic dystrophy (ATD), also known as 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 small abdomen. This can lead to difficulty breathing, as well as other complications. ATD is caused by a mutation in the IFT80 gene, and is inherited in an autosomal recessive pattern. Treatment typically involves surgery to correct the chest and abdomen deformities, as well as physical therapy and other supportive care.

The symptoms of Asphyxiating Thoracic Dystrophy (ATD) vary depending on the severity of the condition, but may include:

-Shortness of breath
-Chest pain
-Difficulty breathing
-Fatigue
-Coughing
-Wheezing
-Rapid breathing
-Abnormal chest shape
-Abnormal rib cage shape
-Abnormal spine shape
-Scoliosis
-Kyphosis
-Pectus excavatum (sunken chest)
-Pectus carinatum (pigeon chest)
-Heart murmurs
-Heart arrhythmias
-Abnormal heart size
-Abnormal lung size
-Abnormal liver size
-Abnormal kidney size
-Abnormal facial features
-Delayed growth and development
-Joint

Asphyxiating thoracic dystrophy (ATD) is a rare genetic disorder caused by mutations in the gene encoding the transcription factor TBX-4. This gene is responsible for the development of the rib cage and other structures in the chest. Mutations in this gene can lead to a variety of skeletal abnormalities, including a narrow chest, short ribs, and a small thoracic cavity. This can lead to difficulty breathing and other respiratory problems. Other causes of ATD include chromosomal abnormalities, such as trisomy 18, and environmental factors, such as exposure to certain toxins.

The primary treatment for Asphyxiating Thoracic Dystrophy (ATD) is surgery. The goal of surgery is to improve the patient's breathing and to correct any skeletal deformities. Depending on the severity of the condition, the surgery may involve removing ribs, reshaping the chest wall, and/or reconstructing the spine. In some cases, a tracheostomy may be necessary to help the patient breathe. Other treatments may include physical therapy, occupational therapy, and bracing to help improve posture and mobility. In some cases, medications may be prescribed to help manage pain and other symptoms.

1. Genetic mutation in the FKRP gene
2. Family history of Asphyxiating Thoracic Dystrophy
3. Male gender
4. Premature birth
5. Low birth weight
6. Respiratory distress at birth

At this time, there is no cure for Asphyxiating Thoracic Dystrophy (ATD). However, there are medications and treatments available to help manage the symptoms of ATD. These include physical therapy, occupational therapy, respiratory therapy, and medications to help manage pain, breathing, and other symptoms. Additionally, surgery may be recommended to help improve the quality of life for those with ATD.