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Copyright 1996, 2003
Synonyms of De Santis Cacchione Syndrome
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
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
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
149 Madison Avenue
Suite 901
New York NY 10016
Phone #: 212-725-5176
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
Department of Path
Med Sci Bldg Rm C-520
185 S Orange Ave
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
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