SNP Shot: Genomic Insights

Jeune syndrome, also known as asphyxiating thoracic dystrophy, is a genetic disorder affecting bone development. Key features include a small chest, short ribs, shortened limbs, short stature, and polydactyly (extra fingers and toes). Other skeletal issues may involve abnormally shaped collarbones (clavicles) and pelvic bones, along with cone-shaped ends of long bones in the arms and legs. Severely affected newborns often have a very narrow, bell-shaped chest, hindering lung development and causing life-threatening respiratory issues. Consequently, survival may be limited to infancy or early childhood. However, those who live past the initial years may experience improvement in chest size and breathing capacity with age.

Some individuals with asphyxiating thoracic dystrophy present with milder skeletal abnormalities and only minor breathing problems, such as rapid or labored breathing. These individuals may live into adolescence or adulthood. After infancy, kidney (renal) abnormalities, potentially leading to kidney malfunction or failure, can emerge as a life-threatening complication. Heart defects and subglottic stenosis (narrowing of the airway) are also possible. Less frequent features can include liver disease, pancreatic cysts, dental abnormalities, and retinal dystrophy, an eye disease that can cause vision loss.

Inheritance:

Asphyxiating thoracic dystrophy follows an autosomal recessive inheritance pattern. This means that to inherit the condition, an individual must inherit two mutated copies of the responsible gene, one from each parent. The parents, who each carry one copy of the mutated gene, are typically unaffected and do not exhibit signs or symptoms of the condition.