De Santis Cacchione Syndrome

Content provided by National Organization for Rare Disorders

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)428-7100

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



Skin Cancer Foundation

245 Fifth Avenue

Suite 1403

New York, NY 10016

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: 3014954484

Fax: 3017186366

Tel: 8772264267

TDD: 3015652966

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: 5188512612

Fax: 5188512612

Email: xps@xps.org

Internet: 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

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:  4/25/2008

Copyright  1996, 2003 National Organization for Rare Disorders, Inc.

Last updated:	April 25, 2008