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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
  • Neonatal osseous dysplasia 1
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Your Question

Can you please help me get information on atelosteogenesis type 2? I have just found out that I have this.

Our Answer

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What is Atelosteogenesis type 2?

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
Other Names for this Disease
  • AO2
  • AOII
  • 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.