Asphyxiating thoracic dystrophy 1 also known as Jeune syndrome is an autosomal recessive skeletal dysplasia characterised by a constricted thoracic cage, short limbs, short stature, and metaphyseal changes. Presence of a narrow thoracic cage in patients restrict the growth and expansion of the lungs causing respiratory insufficiency during early years. Patients may also develop variable renal, hepatic, and retinal abnormalities.
Jeune syndrome is rare and has an incidence rate of about 1-5 in every 500,000 livebirths. It is linked to the chromosomal region 15q13.