Open Access Articles- Top Results for Asphyxiating thoracic dysplasia

Asphyxiating thoracic dysplasia

Asphyxiating thoracic dysplasia
CXR of a newborn with asphyxiating thoracic dysplasia. Note the short ribs.
Classification and external resources
OMIM 208500
DiseasesDB 32469
eMedicine article/945537
NCI Asphyxiating thoracic dysplasia
Patient UK Asphyxiating thoracic dysplasia
Lateral CXR of the same person above.

Asphyxiating thoracic dysplasia or Jeune syndrome is a ciliopathy.

It is also known as "Jeune syndrome".[1]

It was described in 1955.[2][3]

Types include:

Type OMIM Gene Locus
ATD1 208500  ? 15q13
ATD2 611263 IFT80 3q
ATD3 613091 DYNC2H1 11q

Jeune syndrome is a rare genetic disorder that affects the way a child’s cartilage and bones develop. It begins before the child is born. Jeune syndrome affects the child's rib cage, pelvis, arms and legs. Usually, problems with the rib cage cause the most serious health problems for children with Jeune syndrome. Their rib cages (thorax) are smaller and narrower than usual. This can keep the child's lungs from developing fully or expanding when the child inhales. The child may breathe rapidly and shallowly. They may have trouble breathing when they have an upper or lower respiratory infection, like pneumonia. Breathing trouble can range from mild to severe. In some children, it’s not noticeable, aside from fast breathing. In most children, breathing problems are serious. About 60% to 70% of children with this condition die from respiratory failure as babies or young children. Children with Jeune syndrome who survive often develop problems with their kidneys, another serious feature of Jeune syndrome. Over time their kidneys may fail (called “renal failure”), which means they need dialysis (a process for filtering blood using a machine) or a kidney transplant to survive. As a result, few children with Jeune syndrome live into their teen years. Children with Jeune syndrome have a form of dwarfism. They are short in stature, and their arms and legs are shorter than most people’s. Another name for Jeune syndrome is asphyxiating thoracic dystrophy (pronounced as-FIK-see-ate-ing tho-RASS-ik DISS-troh-fee). This diagnosis is grouped with other chest problems called thoracic (pronounced tho-RASS-ik) insufficiency syndrome (TIS). TIS is often caused by skeletal problems, such as scoliosis (in which the spine curves to the side) or other problems with the formation of the ribs.


  1. ^ de Vries J, Yntema JL, van Die CE, Crama N, Cornelissen EA, Hamel BC (January 2010). "Jeune syndrome: description of 13 cases and a proposal for follow-up protocol". Eur. J. Pediatr. 169 (1): 77–88. PMC 2776156. PMID 19430947. doi:10.1007/s00431-009-0991-3. 
  2. ^ Diana W. Bianchi; Timothy M. Crombleholme; Mary E. D'Alton (2000). Fetology: diagnosis & management of the fetal patient. McGraw-Hill Professional. pp. 673–. ISBN 978-0-8385-2570-8. Retrieved 25 November 2010. 
  3. ^ JEUNE M, BERAUD C, CARRON R (1955). "[Asphyxiating thoracic dystrophy with familial characteristics.]". Arch. Fr. Pediatr. (in French) 12 (8): 886–91. PMID 13292988. 

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