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Acromicric 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]
References
- L. Faivre-Olivier. Acromicric dysplasia. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=969. Accessed January 25, 2012.
- Marla J. F. O'Neill. ACROMICRIC DYSPLASIA; ACMICD. OMIM. http://omim.org/entry/102370. Accessed January 30, 2012.
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General 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Acromicric dysplasia. Click on the link to go to OMIM and review these resources.