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"Resources" on this report.
Copyright 1997, 1998, 1999, 2006, 2007, 2009
NORD is very grateful to Robert C. Olney, MD, Director, Pediatric Endocrinology Training Program; Assistant Professor of Pediatrics, Mayo Medical School, for assistance in the preparation of this report.
Synonyms of Acromesomelic Dysplasia
Disorder Subdivisions
- Acromesomelic Dysplasia, Grebe Type
- Acromesomelic Dysplasia, Hunter-Thompson Type
- Acromesomelic Dysplasia, Maroteaux 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.
Organizations related to Acromesomelic Dysplasia
- European Skeletal Dysplasia Network (ESDN)
Wellcome Trust Centre for Cell-Matrix Research
Faculty of Life Sciences
University of Manchester
Michael Smith Building, Oxford Road
Manchester None M13 9PT
Phone #: 44 -161- 275 5642
800 #: N/A
e-mail: info@esdn.org
Home page: http://www.esdn.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- Little People of America, Inc.
250 El Camino Real
Suite 201
Tustin CA 92780
Phone #: 714-368-3689
800 #: 888-572-2001
e-mail: info@lpaonline.org
Home page: http://www.lpaonline.org
- MAGIC Foundation
6645 W. North Avenue
Oak Park IL 60302
Phone #: 708-383-0808
800 #: 800-362-4423
e-mail: mary@magicfoundation.org
Home page: http://www.magicfoundation.org
- NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda MD 20892-3675
Phone #: 301-495-4484
800 #: 877-226-4267
e-mail: NIAMSinfo@mail.nih.gov
Home page: http://www.niams.nih.gov/Health_Info
- Restricted Growth Association
PO Box 1024
Peterborough Intl PE1 9GX
Phone #: 030-0 1-11 1970
800 #: --
e-mail: office@restrictedgrowth.co.uk
Home page: http://www.restrictedgrowth.co.uk
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