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It is possible that the main title of the report Acrodysostosis is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Acrodysostosis is an extremely rare skeletal disorder characterized by abnormally short and malformed bones of the hands and feet (peripheral dysostosis) and underdevelopment of the nose (nasal hypoplasia). Other findings may include progressive growth delays, short stature, and/or unusual head and facial (craniofacial) features. Affected infants may exhibit premature maturation of bones of the hands and feet, malformation and shortening of the forearm bones (radius and ulna) near the wrist, and/or abnormally short fingers and toes (brachydactyly). Characteristic facial features may include a flattened, underdeveloped (hypoplastic) "pug" nose, an underdeveloped upper jaw bone (maxilliary hypoplasia), widely spaced eyes (ocular hypertelorism), and/or an extra fold of skin on either side of the nose that may cover the eyes' inner corners (epicanthal folds).
Acrodysostosis is usually accompanied by moderate mental retardation and learning difficulties. It may be inherited as an autosomal dominant trait in some cases, although no gene has yet been identified with this disorder. Acrodysostosis seems to be associated in some cases with advanced parental age.
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Coalition for Heritable Disorders of Connective Tissue (CHDCT)
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This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email email@example.com
Last Updated: 4/25/2008
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