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Atlas of Genetic Diagnosis and Counseling pp 157–166Cite as

Asphyxiating Thoracic Dystrophy

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In 1955, Jeune et al. described familial asphyxiating thoracic dystrophy (ATD) in a pair of siblings with severely narrow thoraxes. This condition is also known as Jeune syndrome. Incidence is estimated at 1 per 100,000–130,000 live births (den Hollander et al. 2001).

Jeune syndrome, a potentially lethal congenital dwarfism, is a rare autosomal recessive disorder characterized by typical skeletal dysplasias, such as a narrow thorax and micromelia, with respiratory and renal manifestations. Respiratory manifestations vary widely from respiratory failure and infantile death to a latent phenotype without respiratory symptoms.

Synonyms and Related Disorders

Jeune Syndrome

Genetics/Basic Defects

  1. 1.

    Inheritance: autosomal recessive

  2. 2.

    Genetically heterogeneous

    1. a.

      One locus mapped to chromosome 15q13 (Morgan et al. 2003).

    2. b.

      Families with both mild and severe forms of ATD mapped to 15q13.

    3. c.

      Five consanguineous families sharing a 1.2 cM region of homozygosity between D15S165 and D15S1010.

      ...

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Editor information

Editors and Affiliations

  1. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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(2012). Asphyxiating Thoracic Dystrophy. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_17

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