Acrodysostosis

Content provided by National Organization for Rare Disorders

Important

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.

Synonyms

• PNM
• Peripheral Dysostosis-Nasal Hypoplasia-Mental Retardation

Disorder Subdivisions

• None

General Discussion

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.

Resources

MAGIC Foundation for Children's Growth

6645 W. North Avenue

Oak Park, IL 60302

Tel: (708)383-0808

Fax: (708)383-0899

Tel: (800)362-4423

Email: mary@magicfoundation.org

Internet: http://www.magicfoundation.org



Little People of America, Inc.

250 El Camino Real

Suite 201

Tustin, CA 92780

Tel: (714)368-3689

Tel: (888)572-2001

Email: info@lpaonline.org

Internet: http://www.lpaonline.org



Restricted Growth Association

P.O. Box 4744

Dorchester

Dorset, Intl DT2 9FA

United Kingdom

Tel: 01308 898445

Fax: 01308 898445

Internet: http://www.restrictedgrowth.co.uk



MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network

150 Custer Court

Green Bay, WI 54301-1243

USA

Tel: 9203365333

Fax: 9203390995

Tel: 8773365333

Email: mums@netnet.net

Internet: http://www.netnet.net/mums/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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 orphan@rarediseases.org

Last Updated:  4/25/2008

Copyright  1989, 1996, 2005 National Organization for Rare Disorders, Inc.

Last updated:	April 25, 2008