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Genetic and Rare Diseases Information Center (GARD)

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Acromesomelic dysplasia


Other Names for this Disease

  • Acromesomelic dwarfism
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Overview

Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait.[1]

There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below.[1]
Acromesomelic dysplasia, Maroteaux type
Acromesomelic dysplasia, Hunter-Thompson type
Acromesomelic dysplasia, Grebe type
Last updated: 6/28/2011

References

  1. Acromesomelic dysplasia. National Organization for Rare Disorders (NORD). 2009; http://rarediseases.org/rare-disease-information/rare-diseases/byID/1087/viewAbstract. Accessed 6/28/2011.
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Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • 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 Acromesomelic dysplasia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Acromesomelic dwarfism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.