Diseases & Conditions


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Acromesomelic Dysplasia


Synonyms of Acromesomelic Dysplasia
  • Acromesomelic Dwarfism

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
    Manchester None M13 9PT
    Phone #: 44 -161- 275 5642
    800 #: N/A
    e-mail: info@esdn.org
    Home page: http://www.esdn.org
  • Little People of America, Inc.
    250 El Camino Real
    Tustin CA 92780
    Phone #: 714-368-3689
    800 #: 888-572-2001
    e-mail: info@lpaonline.org
    Home page: http://www.lpaonline.org
  • MAGIC Foundation for Children's Growth
    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
    P.O. Box 4744
    Dorset Intl DT2 9FA
    Phone #: 013-08 -898445
    800 #: --
    e-mail: N/A
    Home page: http://www.restrictedgrowth.co.uk



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