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Genetic and Rare Diseases Information Center (GARD)

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Acromicric dysplasia


Other Names for this Disease

  • Acromicric skeletal dysplasia
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Overview

Acromicric dysplasia is a rare type of skeletal dysplasia characterized by abnormal bone growth. Signs and symptoms include short stature, short hands and feet, mildly distinctive facial features, characteristic X-ray abnormalities of the hands, and other features that occasionally occur. Intelligence is normal.[1] It has recently been found to be caused by mutations in the FBN1 gene and is inherited in an autosomal dominant manner.[2] The prognosis for affected individuals is good; no major complications appear to occur in affected individuals and life expectancy is normal.[1]
Last updated: 1/30/2012

References

  1. L. Faivre-Olivier. Acromicric dysplasia. Orphanet. May 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=969. Accessed 1/25/2012.
  2. Marla J. F. O'Neill. ACROMICRIC DYSPLASIA; ACMICD. OMIM. August 22, 2011; http://omim.org/entry/102370. Accessed 1/30/2012.
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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

  • The Online Mendelian Inheritance in Man (OMIM) is an 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 Acromicric dysplasia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Acromicric skeletal dysplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.