De Santis Cacchione Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report De Santis Cacchione Syndrome is not the name you expected.
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.
Genetic and Rare Diseases (GARD) Information Center
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March of Dimes
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NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
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- Email: NIAMSinfo@mail.nih.gov
- Website: http://www.niams.nih.gov/
Skin Cancer Foundation
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Xeroderma Pigmentosum Society, Inc.
- 437 Snydertown Road,
- Craryville, NY 12521
- Tel: (518)851-2612
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- Website: http://www.xps.org/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Last Updated: 4/25/2008
Copyright 2003 National Organization for Rare Disorders, Inc.
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