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Trisomy 13
Patau Syndrome
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Overview
Trisomy 13, also called Patau syndrome, is a genetic disorder in which all or a portion of chromosome 13 appears three times (a trisomy) rather than twice in cells of the body. In some affected people, only a portion of cells may contain the extra chromosome 13 (called mosaic trisomy 13), whereas other cells contain the normal chromosomal pair. Trisomy 13 causes severe intellectual disability and many physical abnormalities, such as heart defects; brain or spinal cord abnormalities; very small or poorly developed eyes (microphthalmia); extra fingers or toes; cleft lip with or without cleft palate; and weak muscle tone (hypotonia). Most cases are not inherited and result from random errors during the formation of eggs or sperm in healthy parents. Due to various life-threatening medical problems, many infants with trisomy 13 do not survive past the first days or weeks of life. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.
Description Last Updated: Mar 13, 2015
Description Last Updated: Mar 13, 2015
Trusted Medical Sites
Genetic & Rare Diseases Information Center (GARD)
GARD provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases in English or Spanish.
Support Organizations
Support organizations can provide help and guidance in areas such as peer matching, education and training, and therapy and counseling.
Disease Resources
Resources can help guide your quest for factual and reliable information.
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The Progeria Handbook; A Guide for Families and Health Care Providers of Children with Progeria.
This 100-page handbook helps answer many questions for children with Progeria about how to optimize quality of life through daily care and medical treatment. Contains basic health facts,daily care recommendations and extensive treatment guidelines.
AAMDSIF Online Academy (webinars)
200+ FREE webinars for patients, families and caregivers about rare blood cancers and bone marrow failure diseases.
Educational Resources
Publications, links to patient conferences and webinars
Disease Information
Descriptions of various rare blood cancers and bone marrow failure diseases.