Diseases & Conditions


Diastrophic Dysplasia

Synonyms of Diastrophic Dysplasia
  • DD
  • Diastrophic Dwarfism
  • Diastrophic Nanism Syndrome
  • DTD

Disorder Subdivisions

    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.

    Organizations related to Diastrophic Dysplasia
    • AmeriFace
      PO Box 751112
      Las Vegas NV 89136
      Phone #: 702-769-9264
      800 #: 888-486-1209
      e-mail: [email protected]
      Home page: http://www.ameriface.org
    • Cleft Palate Foundation
      1504 East Franklin Street
      Chapel Hill NC 27514-2820
      Phone #: 919-933-9044
      800 #: 800-242-5338
      e-mail: [email protected]
      Home page: http://www.cleftline.org
    • 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: [email protected]
      Home page: http://www.esdn.org
    • Human Growth Foundation
      997 Glen Cove Avenue
      Glen Head NY 11545
      Phone #: 516-671-4041
      800 #: 800-451-6434
      e-mail: [email protected]
      Home page: http://www.hgfound.org/
    • Little People of America, Inc.
      250 El Camino Real
      Tustin CA 92780
      Phone #: 714-368-3689
      800 #: 888-572-2001
      e-mail: [email protected]
      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: [email protected]
      Home page: http://www.magicfoundation.org
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: [email protected]
      Home page: http://www.netnet.net/mums/
    • March of Dimes Birth Defects Foundation
      1275 Mamaroneck Avenue
      White Plains NY 10605
      Phone #: 914-428-7100
      800 #: 888-663-4637
      e-mail: [email protected]
      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: [email protected]
      Home page: http://www.niams.nih.gov/Health_Info
    • NIH/National Institute of Child Health & Human Development (Preg & Perinat)
      Pregnancy and Perinatology Branch
      Bethesda MD 20892-7510
      Phone #: 301-496-5575
      800 #: --
      e-mail: [email protected]
      Home page: http://www.nichd.nih.gov
    • NIH/National Institute on Deafness and Other Communication Disorders (Balance)
      National Temporal Bone, Hearing
      Boston MA 02114-3096
      Phone #: --
      800 #: 800-822-1327
      e-mail: [email protected]
      Home page: http://www.tbregistry.org
    • National Craniofacial Foundation
      3100 Carlisle Street
      Dallas TX 75204
      Phone #: --
      800 #: 800-535-3643
      e-mail: N/A
      Home page: N/A
    • National Spinal Cord Injury Association
      6701 Democracy
      Bethesda MD 20817
      Phone #: 301-214-4006
      800 #: 800-962-9629
      e-mail: [email protected]
      Home page: http://www.spinalcord.org
    • Prescription Parents
      Prescription Parent, Inc.
      Needham MA 02492
      Phone #: 617-499-1936
      800 #: --
      e-mail: [email protected]
      Home page: http://www.prescriptionparents.com
    • Spinal Cord Injury Network International
      3911 Princeton Drive
      Santa Rosa CA 95405-7013
      Phone #: 707-577-8796
      800 #: 800-548-2673
      e-mail: [email protected]
      Home page: http://www.spinalcordinjury.org
    • Wide Smiles
      P.O. Box 5153
      Stockton CA 95205-0153
      Phone #: 209-942-2812
      800 #: --
      e-mail: [email protected]
      Home page: http://www.widesmiles.org

    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