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    Diastrophic Dysplasia

    Important
    It is possible that the main title of the report Diastrophic 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

    • Diastrophic Dwarfism
    • DTD
    • DD
    • Diastrophic Nanism Syndrome

    Disorder Subdivisions

    • None

    General Discussion

    Diastrophic dysplasia, which is also known as disastrophic dwarfism, is a rare disorder that is present at birth (congenital). The range and severity of associated symptoms and physical findings may vary greatly from case to case. However, the disorder is often characterized by short stature and unusually short arms and legs (short-limbed dwarfism); abnormal development of bones (skeletal dysplasia) and joints (joint dysplasia) in many areas of the body; progressive abnormal curvature of the spine (scoliosis and/or kyphosis); abnormal tissue changes of the outer, visible portions of the ears (pinnae); and/or, in some cases, malformations of the head and facial (craniofacial) area.

    In most infants with diastrophic dysplasia, the first bone within the body of each hand (first metacarpals) may be unusually small and "oval shaped," causing the thumbs to deviate away (abduction) from the body ("hitchhiker thumbs"). Other fingers may also be abnormally short (brachydactyly) and joints between certain bones of the fingers (proximal interphalangeal joints) may become fused (symphalangism), causing limited flexion and restricted movement of the finger joints. Affected infants also typically have severe foot deformities (talipes or "clubfeet") due to abnormal deviation and fusion of certain bones within the body of each foot (metatarsals). In addition, many children with the disorder experience limited extension, partial (subluxation) or complete dislocation, and/or permanent flexion and immobilization (contractures) of certain joints.

    In most infants with diastrophic dysplasia, there is also incomplete closure of bones of the spinal column (spina bifida occulta) within the neck area and the upper portion of the back (lower cervical and upper thoracic vertebrae). In addition, during the first year of life, some affected children may begin to develop progressive abnormal sideways curvature of the spine (scoliosis). During adolescence, individuals with the disorder may also develop abnormal front-to-back curvature of the spine (kyphosis), particularly affecting vertebrae within the neck area (cervical vertebrae). In severe cases, progressive kyphosis may lead to difficulties breathing (respiratory distress). Some individuals may also be prone to experiencing partial dislocation (subluxation) of joints between the central areas (bodies) of cervical vertebrae, potentially resulting in spinal cord injury. Such injury may cause muscle weakness (paresis) or paralysis and/or life-threatening complications.

    In addition, most newborns with diastrophic dysplasia have or develop abnormal fluid-filled sacs (cysts) within the outer, visible portions of the ears (pinnae). Within the first weeks of life, the pinnae become swollen and inflamed and unusually firm, thick, and abnormal in shape. Over time, the abnormal areas of tissue (lesions) may accumulate deposits of calcium salts (calcification) and eventually develop into bone (ossification). Some affected infants may also have abnormalities of the head and facial (craniofacial) area including incomplete closure of the roof of the mouth (cleft palate) and/or abnormal smallness of the jaws (micrognathia). In addition, in some affected infants, abnormalities of supportive connective tissue (cartilage) within the windpipe (trachea), voice box (larynx), and certain air passages in the lungs (bronchi) may result in collapse of these airways, causing life-threatening complications such as respiratory obstruction and difficulties breathing. In some individuals with the disorder, additional symptoms and physical findings may also be present. Diastrophic dysplasia is inherited as an autosomal recessive trait.

    Resources

    Human Growth Foundation
    997 Glen Cove Avenue
    Suite 5
    Glen Head, NY 11545
    Tel: (516)671-4041
    Fax: (516)671-4055
    Tel: (800)451-6434
    Email: hgf1@hgfound.org
    Internet: http://www.hgfound.org/

    MAGIC Foundation
    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

    March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains, NY 10605
    Tel: (914)997-4488
    Fax: (914)997-4763
    Tel: (888)663-4637
    Email: Askus@marchofdimes.com
    Internet: http://www.marchofdimes.com

    AmeriFace
    P.O. Box 751112
    Limekiln, PA 19535
    USA
    Tel: (702)769-9264
    Fax: (702)341-5351
    Tel: (888)486-1209
    Email: info@ameriface.org
    Internet: http://www.ameriface.org

    Little People of America, Inc.
    250 El Camino Real Suite 201
    Tustin, CA 92780
    Tel: (714)368-3689
    Fax: (714)368-3367
    Tel: (888)572-2001
    Email: info@lpaonline.org
    Internet: http://www.lpaonline.org/

    Cleft Palate Foundation
    1504 East Franklin Street
    Suite 102
    Chapel Hill, NC 27514-2820
    USA
    Tel: (919)933-9044
    Fax: (919)933-9604
    Tel: (800)242-5338
    Email: info@cleftline.org
    Internet: http://www.cleftline.org

    Prescription Parents
    22 Ingersoll Road
    P.O. Box 920554
    Wellesley, MA 02181
    USA
    Tel: (617)499-1936
    Email: info@prescriptionparents.org
    Internet: http://www.prescriptionparents.org

    National Spinal Cord Injury Association
    75-20 Astoria Blvd
    Jackson Heights, NY 11370
    USA
    Tel: (718)803-3782
    Tel: (800)962-9629
    Email: info@spinalcord.org
    Internet: http://www.spinalcord.org

    NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
    Information Clearinghouse
    One AMS Circle
    Bethesda, MD 20892-3675
    USA
    Tel: (301)495-4484
    Fax: (301)718-6366
    Tel: (877)226-4267
    TDD: (301)565-2966
    Email: NIAMSinfo@mail.nih.gov
    Internet: http://www.niams.nih.gov/

    NIH/National Institute on Deafness and Other Communication Disorders
    31 Center Drive, MSC 2320
    Communication Avenue
    Bethesda, MD 20892-3456
    Tel: (301)402-0900
    Fax: (301)907-8830
    Tel: (800)241-1044
    TDD: (800)241-1105
    Email: nidcdinfo@nidcd.nih.gov
    Internet: http://www.nidcd.nih.gov

    Coalition for Heritable Disorders of Connective Tissue (CHDCT)
    4301 Connecticut Avenue, NW Suite 404
    Washington, DC 20008
    Tel: (202)362-9599
    Fax: (202)966-8553
    Tel: (800)778-7171
    Email: chdct@pxe.org
    Internet: http://www.chdct2.org/

    Wide Smiles
    P.O. Box 5153
    Stockton, CA 95205-0153
    USA
    Tel: (209)942-2812
    Fax: (209)464-1497
    Email: josmiles@yahoo.com
    Internet: http://www.widesmiles2.org/

    Spinal Cord Injury Network International
    3911 Princeton Drive
    Santa Rosa, CA 95405-7013
    Tel: (707)577-8796
    Fax: (707)577-0605
    Tel: (800)548-2673
    Email: contact@spinalcordinjury.org
    Internet: http://www.spinalcordinjury.org

    NIH/National Institute of Child Health and Human Development
    31 Center Dr
    Building 31, Room 2A32
    MSC2425
    Bethesda, MD 20892
    Fax: (866)760-5947
    Tel: (800)370-2943
    TDD: (888)320-6942
    Email: NICHDInformationResourceCenter@mail.nih.gov
    Internet: http://www.nichd.nih.gov/

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    European Skeletal Dysplasia Network
    Institute of Genetic Medicine
    Newcastle University
    International Centre for Life
    Central Parkway
    Newcastle upon Tyne, NE1 3BZ
    United Kingdom
    Tel: 441612755642
    Fax: 441612755082
    Email: info@esdn.org
    Internet: http://www.esdn.org

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    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: 9/17/2007
    Copyright 1987, 1989, 1997, 1998, 1999, 2001, 2003, 2007 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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