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

De Santis Cacchione Syndrome


Synonyms of De Santis Cacchione Syndrome
  • Xerodermic Idiocy

Disorder Subdivisions



    General Discussion
    De Sanctis-Cacchione syndrome is an extremely rare disorder characterized by the skin and eye symptoms of xeroderma pigmentosum (XP) occurring in association with neurological abnormalities, mental retardation, unusually short stature (dwarfism), and underdevelopment of the testes or ovaries (hypogonadism). Xeroderma pigmentosum is a group of rare inherited skin disorders characterized by a heightened reaction to ultraviolet light (photosensitivity), skin discolorations, and the possible development of several types of eye disorders and skin cancers. The most common neurological abnormalities associated with De Sanctis- Cacchione syndrome are low intelligence, an abnormally small head (microcephaly), the loss of ability to coordinate voluntary movement (ataxia), and/or absent (areflexia) or weakened (hyporeflexia) reflexes. De Sanctis-Cacchione syndrome is inherited as an autosomal recessive trait.
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    Organizations related to De Santis Cacchione Syndrome
    • 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
    • Skin Cancer Foundation
      245 Fifth Avenue
      New York NY 10016
      Phone #: N/A
      800 #: 800-754-6490
      e-mail: info@skincancer.org
      Home page: http://www.skincancer.org
    • Xeroderma Pigmentosum Registry
      Univ of Medicine and Dentistry of NJ
      Newark NJ 07103-2714
      Phone #: 973-972-4405
      800 #: --
      e-mail: N/A
      Home page: N/A
    • Xeroderma Pigmentosum Society
      437 Snydertown Road
      Craryville NY 12521
      Phone #: 518-851-2612
      800 #: --
      e-mail: xps@xps.org
      Home page: http://www.xps.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