National Organization for Rare Disorders, Inc.
Important
It is possible that the main title of the report Acromesomelic Dysplasia
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
- Acromesomelic Dwarfism
Disorder Subdivisions
- Acromesomelic Dysplasia, Maroteaux Type
- Acromesomelic Dysplasia, Hunter-Thompson Type
- Acromesomelic Dysplasia, Grebe Type
General Discussion
Acromesomelic dysplasia is an extremely rare, inherited, progressive skeletal disorder that results in a particular form of short stature (short-limb dwarfism). The disorder is characterized by acromelia and mesomelia. Mesomelia describes the shortening of the bones of the forearms and forelegs relative to the upper parts of those limbs. Acromelia is the shortening of the bones of the hands and feet relative to the upper and middle limb segments. Thus, the short stature of affected individuals is the result of unusually short forearms and abnormal shortening of bones of the lower (distal) legs. These findings are apparent during the first years of life. Abnormal cartilage and bone development may also affect other bones of the body, particularly those of the hands and feet (i.e., metacarpals, phalanges, metatarsals). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. The fingernails and toenails may also appear unusually short and wide.
Affected individuals may have additional abnormalities resulting from abnormal cartilage and bone development, including limited extension of the elbows and arms and/or progressive abnormal curvature of the spine. Other characteristic abnormalities include a relatively enlarged head (macrocephaly), slightly flattened midface, and/or small, pug nose. AMD is inherited as an autosomal recessive genetic trait.
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
NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
USA
Tel: 3014954484
Fax: 3017186366
Tel: 8772264267
TDD: 3015652966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov/Health_Info
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: 9/23/2007
Copyright 1997, 1998, 1999, 2006, 2007 National Organization for Rare Disorders, Inc.
 |