Asphyxiating thoracic dysplasia 3

Asphyxiating thoracic dysplasia 3 (ATD3), also known as Jeune syndrome, is a rare genetic disorder characterized by a narrow thorax, short ribs, shortened limbs, and other skeletal abnormalities. The condition is inherited in an autosomal recessive manner, meaning both copies of the gene in each cell must have mutations for the individual to be affected.

Etiology

ATD3 is caused by mutations in the IFT80 gene. This gene provides instructions for making a protein that is part of the intraflagellar transport system, which is essential for the formation and maintenance of cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells and are involved in cell movement and signaling.

Clinical Features

Individuals with ATD3 typically present with a narrow, bell-shaped thorax with short ribs and various other skeletal abnormalities such as polydactyly (extra fingers or toes), short limbs, and pelvic dysplasia. These skeletal abnormalities can lead to life-threatening complications in infancy, including respiratory distress and renal failure.

Diagnosis

Diagnosis of ATD3 is based on clinical features, radiographic findings, and can be confirmed by genetic testing identifying a mutation in the IFT80 gene. Prenatal diagnosis is possible if the disease-causing mutations in the family are known.

Treatment

There is currently no cure for ATD3. Treatment is supportive and based on the signs and symptoms present in each individual. Management may include respiratory support, renal replacement therapy for those with renal failure, and orthopedic interventions for skeletal abnormalities.

Prognosis

The prognosis for individuals with ATD3 varies. Some individuals may not survive infancy due to severe respiratory distress. Others may live into adulthood with careful management of respiratory and renal complications.

See Also

• Asphyxiating thoracic dysplasia
• IFT80
• Cilia
• Polydactyly
• Autosomal recessive

NIH genetic and rare disease info

• NIH info on Asphyxiating thoracic dysplasia 3

Asphyxiating thoracic dysplasia 3 is a rare disease.

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