Trisomy 13 Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Trisomy 13 Syndrome is not the name you expected.
Trisomy 13 Syndrome is a rare chromosomal disorder in which all or a portion of chromosome 13 appears three times (trisomy) rather than twice in cells of the body. In some affected individuals, only a percentage of cells may contain the extra 13th chromosome (mosaicism), whereas other cells contain the normal chromosomal pair.
In individuals with Trisomy 13 Syndrome, the range and severity of associated symptoms and findings may depend on the specific location of the duplicated (trisomic) portion of chromosome 13, as well as the percentage of cells containing the abnormality. However, in many affected infants and children, such abnormalities may include developmental delays, profound mental retardation, unusually small eyes (microphthalmia), an abnormal groove in the upper lip (cleft lip), incomplete closure of the roof of the mouth (cleft palate), undescended testes (cryptorchidism) in affected males, and extra (supernumerary) fingers and toes (polydactyly). Additional malformations of the head and facial (craniofacial) area may also be present, such as a relatively small head (microcephaly) with a sloping forehead; a broad, flat nose; widely set eyes (ocular hypertelorism); vertical skin folds covering the eyes; inner corners (epicanthal folds); scalp defects; and malformed, low-set ears. Affected infants may also have incomplete development of certain regions of the brain (e.g., the forebrain); kidney (renal) malformations; and structural heart (cardiac) defects at birth (congenital). For example, characteristic heart defects may include an abnormal opening in the partition dividing the upper or lower chambers of the heart (atrial or ventricular septal defects) or persistence of the fetal opening between the two major arteries (aorta, pulmonary artery) emerging from the heart (patent ductus arteriosus). Many infants with Trisomy 13 Syndrome fail to grow and gain weight at the expected rate (failure to thrive) and have severe feeding difficulties, diminished muscle tone (hypotonia), and episodes in which there is temporary cessation of spontaneous berathing (apnea). Life-threatening complications may develop during infancy or early childhood.
Genetic and Rare Diseases (GARD) Information Center
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Let Them Hear Foundation
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March of Dimes
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- Tel: (914)997-4488
- Fax: (914)997-4763
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Medical Home Portal
- Dept. of Pediatrics
- University of Utah
- Salt Lake City, UT 84158
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- Website: http://www.medicalhomeportal.org
National Center on Deaf-Blindness
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- Monmouth, OR 97361
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Perkins School for the Blind
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- Fax: (617)926-2027
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- Website: http://www.Perkins.org
Support Organization for Trisomy 13/18 and Related Disorders, UK
- c/o Christine Rose
- 48 Froggatts Ride
- West Midlands, B76 2TQ SOFT
- United Kingdom
- Tel: 1213513122
- Email: firstname.lastname@example.org
- Website: http://www.soft.org.uk
Support Organization for Trisomy 18, 13, and Related Disorders
- 2982 S. Union Street
- Rochester, NY 14624-1926
- Fax: (585)594-1957
- Tel: (800)716-7638
- Email: email@example.com
- Website: http://www.trisomy.org
- 1825 K Street NW, Suite 1200
- Washington, DC 20006
- Tel: (202)534-3700
- Fax: (202)534-3731
- Tel: (800)433-5255
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- Website: http://www.thearc.org
UNIQUE - Rare Chromosome Disorder Support Group
- G1 The Stables
- Station Road West
- Oxted, RH8 9EE
- United Kingdom
- Tel: 0044 (0)1883 723356
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- Website: http://www.rarechromo.org/html/home.asp
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".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
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.
Last Updated: 10/12/2007
Copyright 2007 National Organization for Rare Disorders, Inc.
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