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Trisomy 13 Syndrome

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Trisomy 13 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

  • Chromosome 13, Trisomy 13 Complete
  • Complete Trisomy 13 Syndrome
  • D Trisomy Syndrome
  • Patau Syndrome

Disorder Subdivisions

  • None

General Discussion

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 1, 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.

Resources

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: barbv@trisomy.org

Internet: http://www.trisomy.org



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



The Arc

1825 K Street NW, Suite 1200

Washington, DC 20006

Tel: (202)534-3700

Fax: (202)534-3731

Tel: (800)433-5255

TDD: (817)277-0553

Email: info@thearc.org

Internet: http://www.thearc.org



Support Organization for Trisomy 13/18 and Related Disorders, UK

c/o Christine Rose

48 Froggatts Ride

Walmley

Sutton Coldfield

West Midlands, B76 2TQ SOFT

United Kingdom

Tel: 01213513122

Email: enquiries@soft.org.uk

Internet: http://www.soft.org.uk



UNIQUE - Rare Chromosome Disorder Support Group

P.O. Box 2189

Caterham

Surrey, CR3 5GN

United Kingdom

Tel: 4401883330766

Fax: 4401883330766

Email: info@rarechromo.org

Internet: http://www.rarechromo.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

Internet: http://rarediseases.info.nih.gov/GARD/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



Let Them Hear Foundation

1900 University Avenue, Suite 101

East Palo Alto, CA 94303

Tel: (650)462-3174

Fax: (650)462-3144

Email: info@letthemhear.org

Internet: http://www.letthemhear.org



Living With Trisomy 13

76 Doolittle St.

Brentwood, NY 11717

Tel: (631)316-6032

Fax: (631)513-4476

Email: Info@livingwithtri13.org

Internet: http://www.livingwithtri13.org



Perkins School for the Blind

175 North Beacon Street

Watertown, MA 02472

Tel: (617)924-3434

Fax: (617)926-2027

Email: Info@Perkins.org

Internet: http://www.Perkins.org



National Consortium on Deaf-Blindness

The Teaching Research Institute

345 N. Monmouth Avenue

Monmouth, OR 97361

Tel: (800)438-9376

Fax: (503)838-8150

Tel: (800)438-9376

TDD: (800)854-7013

Email: info@nationaldb.org

Internet: http://www.nationaldb.org



Medical Home Portal

Dept. of Pediatrics

University of Utah

P.O. Box 581289

Salt Lake City, UT 84158

Tel: (801)587-9978

Fax: (801)581-3899

Email: mindy.tueller@utah.edu

Internet: http://www.medicalhomeportal.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. 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:  10/12/2007

Copyright  1986, 1994, 1998, 1999, 2000, 2001, 2007 National Organization for Rare Disorders, Inc.

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