De Santis Cacchione Syndrome

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report De Santis Cacchione Syndrome 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

  • Xerodermic Idiocy

Disorder Subdivisions

  • None

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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Resources

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

Skin Cancer Foundation
149 Madison Avenue
Suite 901
New York, NY 10016
Tel: (212)725-5176
Fax: (212)725-5751
Tel: (800)754-6490
Email: info@skincancer.org
Internet: http://www.skincancer.org

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 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/Health_Info

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
Tel: (973)972-4405

Xeroderma Pigmentosum Society
437 Snydertown Road
Craryville, NY 12521
USA
Tel: (518)851-2612
Fax: (518)851-2612
Email: xps@xps.org
Internet: http://www.xps.org

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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

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

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