National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Trisomy 13

Información en español


Other Names:
Patau syndrome; Chromosome 13, trisomy 13 complete; Complete trisomy 13 syndrome; Patau syndrome; Chromosome 13, trisomy 13 complete; Complete trisomy 13 syndrome; D trisomy syndrome (formerly) See More
Categories:
Trisomy 13 is a type of chromosome disorder characterized by having 3 copies of chromosome 13 in cells of the body, instead of the usual 2 copies. In some affected people, only a portion of cells contains the extra chromosome 13 (called mosaic trisomy 13), whereas other cells contain the normal chromosome pair.[1][2][3] Trisomy 13 causes severe intellectual disability and many physical abnormalities, such as congenital 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 a random error during the formation of eggs or sperm in healthy parents.[2] Due to various life-threatening medical problems, many infants with trisomy 13 do not survive past the first days or weeks of life.[2]
Last updated: 3/17/2016
Trisomy 13 is associated with severe intellectual disability and physical abnormalities in many parts of the body. People with this condition often have congenital heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers and/or toes (polydactyly), cleft lip or palate, and decreased muscle tone (hypotonia).[2] Many infants with trisomy 13 fail to grow and gain weight at the expected rate (failure to thrive); have severe feeding difficulties; and episodes in which there is temporary cessation of spontaneous breathing (apnea).[1]

Other features or trisomy 13 may include:[3]
Last updated: 9/3/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 56 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of pelvic girdle bone morphology
Abnormal shape of pelvic girdle bone
0002644
Abnormality of the fontanelles or cranial sutures 0000235
Anophthalmia
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball
[ more ] 		0000528
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] 		0001631
Bilateral single transverse palmar creases 0007598
Cleft palate
Cleft roof of mouth
0000175
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] 		0100543
Cystic hygroma 0000476
Hydrops fetalis 0001789
Hypotelorism
Abnormally close eyes
Closely spaced eyes
[ more ] 		0000601
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] 		0010864
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ] 		0001511
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Malar flattening
Zygomatic flattening
0000272
Median cleft lip
Central cleft upper lip
0000161
Microphthalmia
Abnormally small eyeball
0000568
Muscular hypotonia
Low or weak muscle tone
0001252
Neurological speech impairment
Speech disorder
Speech impairment
Speech impediment
[ more ] 		0002167
Patent ductus arteriosus 0001643
Postaxial hand polydactyly
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ] 		0001162
Seizure 0001250
Severe global developmental delay 0011344
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
30%-79% of people have these symptoms
Abnormal eyelash morphology
Abnormal eyelashes
Abnormality of the eyelashes
Eyelash abnormality
[ more ] 		0000499
Abnormal lung lobation 0002101
Abnormal morphology of female internal genitalia 0000008
Abnormal retinal vascular morphology
Abnormality of retina blood vessels
0008046
Abnormality of the antihelix 0009738
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ] 		0000164
Abnormality of the helix 0011039
Abnormality of the middle ear 0000370
Abnormality of the ribs
Rib abnormalities
0000772
Abnormality of the ureter 0000069
Abnormality of vision
Abnormality of sight
Vision issue
[ more ] 		0000504
Aplasia/Hypoplasia of the iris
Absent/small iris
Absent/underdeveloped iris
[ more ] 		0008053
Arnold-Chiari malformation 0002308
Calvarial skull defect
Cranial defect
Skull defect
[ more ] 		0001362
Capillary hemangioma
Strawberry birthmark
0005306
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye
[ more ] 		0000490
Displacement of the urethral meatus 0100627
Ectrodactyly
Cleft hand
Lobster claw hand
[ more ] 		0100257
Hernia 0100790
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] 		0002705
Hydronephrosis 0000126
Iris coloboma
Cat eye
0000612
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Long philtrum 0000343
Multiple renal cysts
Multiple kidney cysts
0005562
Narrow chest
Low chest circumference
Narrow shoulders
[ more ] 		0000774
Optic atrophy 0000648
Preauricular pit
Pit in front of the ear
0004467
Preauricular skin tag 0000384
Scoliosis 0002650
Sensorineural hearing impairment 0000407
Showing of 56 |
Last updated: 7/1/2020
Most cases of trisomy 13 are caused by random events during the formation of eggs or sperm in healthy parents (prior to conception). Trisomy 13 is typically due to having three full copies of chromosome 13 in each cell in the body, instead of the usual two copies. This is referred to as complete trisomy 13 or full trisomy 13. The extra genetic material present disrupts the normal course of development, causing the characteristic features of the disorder.

Trisomy 13 can also occur when part of chromosome 13 becomes attached (translocated) to another chromosome during the formation of eggs or sperm, or very early in fetal development. This is referred to as translocation trisomy 13. People with this type of trisomy 13 have the normal two normal copies of chromosome 13, plus an extra copy of chromosome 13 that is attached to another chromosome. Translocation trisomy 13 can be inherited. Approximately 20% of cases of trisomy 13 are caused by translocation trisomy 13. 

In rare cases, only part of chromosome 13 is present in three copies in each cell (rather than the full chromosome); this is called partial trisomy 13. In other rare cases, a person has an extra copy of chromosome 13 in only some of the body's cells; this is called mosaic trisomy 13. The severity of mosaic trisomy 13 depends on the type and proportion of cells that have the extra chromosome.[4][5]
Last updated: 4/25/2016
Most cases of trisomy 13 are not inherited and result from random events during the formation of eggs and sperm in healthy parents. An error in cell division called nondisjunction results in an egg or sperm cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 13. If one of these contributes to the genetic makeup of a child, the child will have an extra chromosome 13 in each cell of the body.[4]

For a woman who has never had a pregnancy or child with a trisomy, the risk to have a pregnancy with a chromosome abnormality would typically be her age-related risk - the risk increases with maternal age. For a woman who has had an affected pregnancy or child in the past, the recurrence risk is generally quoted as about 1% or the maternal age-related risk - whichever is higher at the time of pregnancy.

On the other hand, translocation trisomy 13 can be inherited. An unaffected parent can have a rearrangement of genetic material between chromosome 13 and another chromosome. These rearrangements are called balanced translocations because there is no extra or missing genetic material from chromosome 13. A person with a balanced translocation involving chromosome 13 has an increased chance of passing extra material from chromosome 13 to his/her children.[4]

People interested in learning about their personal risk to have a child with a chromosome abnormality should speak with their health care provider or a genetics professional.
Last updated: 4/25/2016
While most cases of trisomy 13 occur randomly, a few cases are due to the presence of a translocation involving chromosome 13 in a parent. Parents who are at risk to have a translocation due to their family history can have a blood test called a karyotype, which can determine if a translocation is present.

Prenatal testing or screening (such as maternal blood screening, fetal ultrasound, chorionic villus sampling, or amniocentesis) is also available to determine if a current pregnancy is at risk for, or is affected by, trisomy 13 or other chromosome disorders.

People with a family history of trisomy 13 who are interested in learning about genetic screening or testing for themselves or family members are encouraged speak with a genetic counselor or other genetics professional.
Last updated: 3/17/2016
Treatment for trisomy 13 depends on the affected person's signs and symptoms, and is generally symptomatic and supportive.[3] Surgeries are generally withheld for the first few months of life because of the high mortality rate associated with trisomy 13. Parents and medical personnel must carefully weigh decisions about extraordinary life-prolonging measures against the severity of the neurological and physical defects that are present and the likelihood of post-surgical recovery or prolonged survival.[6]
Last updated: 9/3/2015
Trisomy 13 involves multiple abnormalities, many of which are life-threatening. More than 80% of children with trisomy 13 do not survive past the first month of life. For those that do survive, complications are common and may include:[3]
  • Breathing difficulty or lack of breathing (apnea)
  • Deafness
  • Feeding problems
  • Heart failure
  • Seizures
  • Vision problems

People with trisomy 13 who survive infancy have severe intellectual disability and developmental delays, and are at increased risk for cancers.[6]

Last updated: 9/3/2015

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Trisomy 13. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • The Tracking Rare Incidence Syndromes (TRIS) project seeks to increase the knowledge base on rare incidence trisomy conditions, and to make this information available to families and interested educational, medical and therapeutic professionals.

    TRIS Project
    Deborah A. Bruns, Ph.D., Principal Investigator
    Counseling, Quantitative Methods, and Special Education
    Wham Building, Room 223 MC 4618
    Carbondale, IL 62901
    Phone: 618-453-2311
    E-mail: tris@siu.edu

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Trisomy 13. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Trisomy 13. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I lost a child due to trisomy 13. I have two other children who are both healthy. Is it possible to determine by testing if the disease was caused by translocation or if it was a random occurrence? I am wondering if when they are older I should have my children tested? See answer

  • I have a Robertsonian translocation 13;14. My husband and I just had our trisomy 13 baby boy pass at 24 weeks gestation. My question is, does the type of trisomy 13 a baby has correlate with how long it will live in utero? For example, does full trisomy 13 have a better chance of survival than translocation trisomy 13? Or do they all have an equal prognosis? See answer

  • If we had a fetus that terminated due to trisomy 13, and we took the karyotype test and the mother was determined to be a carrier of the Robertsonian translocation (or other translocation), what are the chances another pregnancy would result in a trisomy 13 baby? See answer

  • I previously had a pregnancy affected by trisomy 13. What is the chance of this happening again in a future pregnancy? Should my partner and I get checked for anything in particular? See answer

  • Can trisomy 13 happen in a fetus because the mother had a chest X-ray early in pregnancy? Can a father taking an antidepressant or an anxiety prescription contribute to the reason a baby has a trisomy? Thank you for any info you could give us. See answer

  • Are there treatments for trisomy 13? What is the prognosis? What is life like for those who have this condition? See answer


  1. Trisomy 13 Syndrome. National Organization for Rare Disorders (NORD). 2007; http://rarediseases.org/rare-diseases/trisomy-13-syndrome/.
  2. Trisomy 13. Genetics Home Reference (GHR). November 2013; http://ghr.nlm.nih.gov/condition/trisomy-13.
  3. Haldeman-Englert C. Trisomy 13. MedlinePlus. September 2013; http://www.nlm.nih.gov/medlineplus/ency/article/001660.htm.
  4. Trisomy 13. Genetics Home Reference. November 2013; http://ghr.nlm.nih.gov/condition/trisomy-13.
  5. Robert L. Nussbaum, Roderick R. McInnes, Huntington F. Willard. Thompson & Thompson Genetics In Medicine. Philadelphia, PA: Saunders Elsevier; 2007; 7:75-95.
  6. Best RG, Stallworth J. Patau Syndrome. eMedicine. 2007; http://emedicine.medscape.com/article/947706-overview. Accessed 10/13/2009.