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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Atelosteogenesis type 2


Other Names for this Disease
  • AO2
  • AOII
  • Atelosteogenesis type II
  • De la Chapelle dysplasia
  • Neonatal osseous dysplasia 1
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Overview

Atelosteogenesis type 2 is a genetic disorder that affects cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. The signs and symptoms of atelosteogenesis type 2 include an opening in the roof of the mouth (a cleft palate), characteristic facial features, an inward- and upward-turning foot (clubfoot), and unusually positioned thumbs (hitchhiker thumbs). Atelosteogenesis type 2 causes serious health problems and infants with this disorder are usually stillborn or die soon after birth from respiratory failure. Some infants, however, have lived for a short time with intensive medical support.[1]
Last updated: 12/17/2013

References

  1. Genetics Home Reference. Atelosteogenesis type 2. http://ghr.nlm.nih.gov/condition/atelosteogenesis-type-2. Accessed 12/17/2013.
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Basic Information

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Atelosteogenesis type 2. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • AO2
  • AOII
  • Atelosteogenesis type II
  • De la Chapelle dysplasia
  • Neonatal osseous dysplasia 1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.