Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Pseudoachondroplastic Dysplasia


Synonyms of Pseudoachondroplastic Dysplasia
  • No synonyms found

Disorder Subdivisions

  • No synonyms found


General Discussion
Pseudoachondroplastic dysplasia is a rare inherited disorder characterized by skeletal malformations resulting in short legs and mild to moderate short stature (short-limbed dwarfism). Affected individuals may have short, stubby fingers (brachydactyly), abnormally bowed legs (genu varum), and/or a malformation in which the knees are abnormally close together and the ankles are unusually far apart (genu valgum). In addition, affected individuals may have spinal abnormalities including abnormally increased curvature of the bones of the lower spine (lumbar lordosis) and front-to-back curvature of the spine (kyphosis). Cases of pseudoachondroplastic dysplasia are due to mutations of the COMP gene. Most cases of pseudoachondroplastic dysplasia are inherited as an autosomal dominant trait. However, a recessive form of the disorder may also exist.
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Organizations related to Pseudoachondroplastic 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
  • March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains NY 10605
    Phone #: 914-428-7100
    800 #: 888-663-4637
    e-mail: Askus@marchofdimes.com
    Home page: http://www.marchofdimes.com
  • 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



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