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Other Names for this Disease
- Acromicric skeletal dysplasia
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. It has recently been found to be caused by mutations in the FBN1 gene and is inherited in an autosomal dominant manner. The prognosis for affected individuals is good; no major complications appear to occur in affected individuals and life expectancy is normal.Acromicric dysplasia is a rare type of
Last updated: 1/30/2012
- 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.
- Marla J. F. O'Neill. ACROMICRIC DYSPLASIA; ACMICD. OMIM. August 22, 2011; http://omim.org/entry/102370. Accessed 1/30/2012.
- 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.