Asphyxiating thoracic dystrophy

Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a small chest, short ribs, and shortened bones in the arms and legs. Additional skeletal abnormalities can include unusually shaped pelvic bones and extra fingers and/or toes (polydactyly). Infants with this condition are born with an extremely narrow, bell-shaped chest that can restrict the growth and expansion of the lungs. Life-threatening problems with breathing often result, and most people with asphyxiating thoracic dystrophy live only into infancy or early childhood.

Some people with asphyxiating thoracic dystrophy experience only mild breathing difficulties, such as rapid breathing or shortness of breath. These individuals may live into adolescence or adulthood. After infancy, people with this condition often develop life-threatening kidney (renal) abnormalities that cause the kidneys to malfunction or fail. Heart defects and a narrowing of the airway (subglottic stenosis) are also possible. Other, less common features of asphyxiating thoracic dystrophy include liver disease, pancreatic cysts, dental abnormalities, and an eye disease called retinal dystrophy that can lead to vision loss.

How common is asphyxiating thoracic dystrophy?

Asphyxiating thoracic dystrophy has an estimated incidence of 1 in 100,000 to 130,000 people.

What genes are related to asphyxiating thoracic dystrophy?

Mutations in the IFT80 gene have been found in several families with asphyxiating thoracic dystrophy. The IFT80 gene provides instructions for making a protein that is found in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are involved in cell movement and many different chemical signaling pathways. Cilia also play an important role in the perception of sensory input (such as sight, hearing, and smell). Although mutations in the IFT80 gene disrupt the normal development and maintenance of cilia, it is unclear how these mutations lead to skeletal abnormalities, kidney problems, and the other features of asphyxiating thoracic dystrophy.

In many cases, the cause of asphyxiating thoracic dystrophy is unknown. Mutations in an unidentified gene on chromosome 15 may account for the condition in some families. Researchers are working to locate other genes that also may be associated with this condition.

Read more about the IFT80 gene.

How do people inherit asphyxiating thoracic dystrophy?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about treatment for asphyxiating thoracic dystrophy?

These resources address the management of asphyxiating thoracic dystrophy and may include treatment providers.

• Christus Santa Rosa Children's Hospital Spinal and Thoracic Treatment and Research Center
• Jeune's Center at Nationwide Children's Hospital
• MedlinePlus Encyclopedia: Chronic Renal Failure
• MedlinePlus Encyclopedia: Polydactyly

You might also find information on treatment of asphyxiating thoracic dystrophy in Educational resources and Patient support.

Where can I find additional information about asphyxiating thoracic dystrophy?

You may find the following resources about asphyxiating thoracic dystrophy helpful. These materials are written for the general public.

• MedlinePlus - Health information (4 links)
• Educational resources - Information pages (5 links)
• Patient support - For patients and families (7 links)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

• PubMed - Recent literature
• OMIM - Genetic disorder catalog (2 links)

What other names do people use for asphyxiating thoracic dystrophy?

• asphyxiating thoracic chondrodystrophy
• Asphyxiating thoracic dysplasia
• asphyxiating thoracic dystrophy (ATD)
• chondroectodermal dysplasia-like syndrome
• infantile thoracic dystrophy
• Jeune syndrome
• Jeune thoracic dysplasia
• Jeune thoracic dystrophy
• thoracic asphyxiant dystrophy

See How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about asphyxiating thoracic dystrophy?

• See How can I find a genetics professional in my area? in the Handbook.
• Ask the Genetic and Rare Diseases Information Center.
• Submit your question to Ask the Geneticist.

Where can I find general information about genetic conditions?

The Handbook provides basic information about genetics in clear language.

• What does it mean if a disorder seems to run in my family?
• What are the different ways in which a genetic condition can be inherited?
• If a genetic disorder runs in my family, what are the chances that my children will have the condition?
• Why are some genetic conditions more common in particular ethnic groups?

These links provide additional genetics resources that may be useful.

• Genetics and health
• Resources for Patients and Families
• Resources for Health Professionals

What glossary definitions help with understanding asphyxiating thoracic dystrophy?

autosomal ; autosomal recessive ; cell ; chromosome ; cilium ; cysts ; dysplasia ; gene ; incidence ; kidney ; mutation ; pancreatic ; perception ; polydactyly ; protein ; recessive ; renal ; sign ; stenosis ; symptom ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References

These sources were used to develop the Genetics Home Reference condition summary on asphyxiating thoracic dystrophy.

• Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CG, Kai M, Hartley J, Johnson C, Irving M, Elcioglu N, Winey M, Tada M, Scambler PJ. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat Genet. 2007 Jun;39(6):727-9. Epub 2007 Apr 29. PubMed citation
• Ho NC, Francomano CA, van Allen M. Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder. Am J Med Genet. 2000 Feb 14;90(4):310-4. PubMed citation
• Kajantie E, Andersson S, Kaitila I. Familial asphyxiating thoracic dysplasia: clinical variability and impact of improved neonatal intensive care. J Pediatr. 2001 Jul;139(1):130-3. PubMed citation
• Morgan NV, Bacchelli C, Gissen P, Morton J, Ferrero GB, Silengo M, Labrune P, Casteels I, Hall C, Cox P, Kelly DA, Trembath RC, Scambler PJ, Maher ER, Goodman FR, Johnson CA. A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13. J Med Genet. 2003 Jun;40(6):431-5. PubMed citation
• Tongsong T, Chanprapaph P, Thongpadungroj T. Prenatal sonographic findings associated with asphyxiating thoracic dystrophy (Jeune syndrome). J Ultrasound Med. 1999 Aug;18(8):573-6. No abstract available. PubMed citation
• Yerian LM, Brady L, Hart J. Hepatic manifestations of Jeune syndrome (asphyxiating thoracic dystrophy). Semin Liver Dis. 2003 May;23(2):195-200. Review. PubMed citation