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Trisomy 13

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Overview

Trisomy 13, also known as the Patau Syndrome, is a chromosome disorder caused by non-disjunction of the 13th chromosome leading to an extra copy of the 13th chromosome (three 13 chromosomes)/(47,XY or XX +13). It is seen in approximately 1 in 10,000 births with increased occurrence with increasing maternal age. It is estimated that the extra chromosome comes from the mother in ninety percent of the cases. Ninety-five percent of affected fetuses are spontaneously aborted, and ninety-five percent of the live-born infants die in the first year and eighty five percent die within the first month. Trisomy 13 occurs nationally in 1:10,000 live born.[Jorde: 2006]

There are variable manifestations associated with Trisomy 13 which may include:
  • oral-facial clefts;
  • microphtalmia (small, abnormally formed eyes);
  • postaxial polydctyly (additional fingers and/or toes);
  • heart defects (atrial septal defects);
  • renal abnormalities (hydronephrosis, hydroureter);
  • CNS abnormalities (meningomyelocele, holoprosencephaly);
  • motor retardation;
  • mental retardation;
  • visual impairments (colobomas, cataracts, optic nerve hypoplasia, microphthalmia, retinal detachment, and nystagmus);
  • abnormal genitalia;
  • overlapping of fingers over thumb;
  • abnormal palm pattern;
  • abdominal defects (omphalocele);
  • microcephaly (small head);
  • low-set ears and deformed ears;
  • scalp defects;
  • sloping forehead;
  • hypertelorism (increased distance between the eyes);
  • wide sagittal suture and fontanelles;
  • single umbilical artery;
  • umbilical and/or inguinal hernia;
  • bicornate uterus (in 47XX+13); and
  • auditory impairment (usually deafness).

Resources

Information & Support

For Parents and Patients

Support

Support Organization for Trisomy 18, 13, and Related Disorders (SOFT)
For families of children with Trisomy 13, 18, and related chromosomal disorders, this organization provides conferences; information; links to local chapters and support groups; and links to other organizations.

Living with Trisomy 13
Support site for families of children with Trisomy 13, by a mother of a child with Trisomy 13.

Compassionate Friends
Families who have lost a child, this organization provides conferences, online support, printed materials, links to local chapters, and links to other organizations.

General

Trisomy 13 (Genetics Home Reference)
Detailed review aimed at patients and families from the National Library of Medicine's Genetics Home Reference site.

Trisomy 13 (Medline Plus)
From the National Library of Medicine and National Institutes of Health, providing access to information about Trisomy 13.

National Organization of Rare Disorders (NORD)
Provides information about many uncommon conditions, including rare "orphan" diseases, and links to organizations that provide services to individuals with rare diseases.

Genetic Alliance
A nonprofit health advocacy organization committed to transforming health through genetics and promoting an environment of openness centered on the health of individuals, families, and communities; their site provides access to myriad resources, services, policies, and publications.

Services

Audiology

See all Audiology services providers (56) in our database.

Developmental Pediatrics

See all Developmental Pediatrics services providers (2) in our database.

Pediatric Cardiology

See all Pediatric Cardiology services providers (2) in our database.

Pediatric Neurology

See all Pediatric Neurology services providers (3) in our database.

Pediatric Ophthalmology

See all Pediatric Ophthalmology services providers (5) in our database.

Pediatric Urology

See all Pediatric Urology services providers (1) in our database.

For other services related to this condition, browse our Services categories or search our database.

Helpful Articles

PubMed search for articles on Trisomy 13 in children for the last 5 years.

Baty BJ, Blackburn BL, Carey JC.
Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk.
Am J Med Genet. 1994;49(2):175-88. PubMed abstract

Baty BJ, Jorde LB, Blackburn BL, Carey JC.
Natural history of trisomy 18 and trisomy 13: II. Psychomotor development.
Am J Med Genet. 1994;49(2):189-94. PubMed abstract

Matthews AL.
Chromosomal abnormalities: trisomy 18, trisomy 13, deletions, and microdeletions.
J Perinat Neonatal Nurs. 1999;13(2):59-75; quiz 103-4. PubMed abstract
Describes the experience for families and the role of the nurse in providing anticipatory guidance.

Rios A, Furdon SA, Adams D, Clark DA.
Recognizing the clinical features of Trisomy 13 syndrome.
Adv Neonatal Care. 2004;4(6):332-43. PubMed abstract
Provides a systematic guide to physical assessment and includes photographs.

Balci S, Güçer S, Orhan D, Karagöz T.
A well-documented trisomy 13 case presenting with a number of common and uncommon features of the syndrome.
Turk J Pediatr. 2008;50(6):595-9. PubMed abstract

Authors

Author: Jennifer Evans, 4/2008
Content Last Updated: 5/2009

Page Bibliography

Jorde LB, Carey JC, Bamshad MJ, White RL.
Medical Genetics.
Third, Updated edition ed. St. Louis: Mosby; 2006. 0323040357 http://www.us.elsevierhealth.com/product.jsp?lid=1&iid=0&sid=961&isbn=...