Trisomy 13

Información en español Title

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:

Chromosome Disorders; Congenital and Genetic Diseases; Digestive Diseases; Chromosome Disorders; Congenital and Genetic Diseases; Digestive Diseases; Eye diseases; Kidney and Urinary Diseases See More

Summary Summary

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 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] Trisomy 13 is diagnosed based on the symptoms, clinical exam, and confirmed by the results of a chromosome test. 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: 12/22/2020

Symptoms Symptoms

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 may stop breathing for short periods of time (apnea).^[1]

Other features of trisomy 13 may include:^[3]

Clenched hands (with outer fingers on top of the inner fingers)
Close-set eyes
Hernias: umbilical hernia, inguinal hernia
A hole, split, or cleft in the iris of the eye (coloboma)
Low-set ears
Scalp defects such as missing skin
Seizures
Single palmar crease
Skeletal (limb) abnormalities
Small head (microcephaly)
Small lower jaw (micrognathia)
Undescended testicle (cryptorchidism)

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 may include:^[3]

Breathing difficulty or lack of breathing (apnea)
Deafness
Feeding problems
Heart failure
Vision problems

People with trisomy 13 who survive infancy have severe intellectual disability and developmental delays, and are at increased risk for cancers.^[4]

Last updated: 12/22/2020

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.

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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 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2021

Cause Cause

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 disrupts the normal course of development, causing the characteristic features seen in trisomy 13.

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. This type of trisomy 13 occurs when someone has 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 a translocation.

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.^[5]^[6]

Last updated: 12/22/2020

Inheritance Inheritance

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.^[5]

For a woman who has never had a pregnancy or child with a trisomy, the risk to have a pregnancy with a chromosome abnormality is associated with her age. The chance to have a baby with trisomy 13 increases with the age of the mother. For a woman who has had a previous child with trisomy 13, the recurrence risk is generally quoted as about 1% or the maternal age-related risk - whichever is higher at the time of pregnancy.

One type of trisomy 13, 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.^[5]

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: 12/22/2020

Diagnosis Diagnosis

Diagnosis of trisomy 13 is based on the symptoms, a clinical exam, and is confirmed by the results of a genetic test to look at the chromosomes known as a karyotype.

While most cases of trisomy 13 occur by chance, 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, non-invasive prenatal 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: 12/22/2020

Treatment Treatment

Treatment for trisomy 13 is focused on managing the symptoms, and providing comfort and supportive care.^[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.^[4]

Last updated: 12/22/2020

Statistics Statistics

It has been estimated that trisomy 13 occurs in about one in 5,000 to 12,000 births. The exact number of people with trisomy 13 is unknown.^[7]

Last updated: 12/22/2020

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Research Research

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

Organizations Organizations

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

Chromosome Disorder Outreach (CDO)
PO Box 724
Boca Raton, FL 33429
Telephone: +1-561-395-4252
E-mail: https://chromodisorder.org/contact/
Website: https://chromodisorder.org/
Hope For Trisomy
PO Box 121986
Arlington, TX 76012
Toll-free: 1-866-977-6637
E-mail: staff@hopefortrisomy13and18.org
Website: https://www.hopefortrisomy13and18.org/
Support Organization for Trisomy 18, 13, and Related Disorders (SOFT)
c/o Barb Vanherreweghe
2982 South Union Street
Rochester, NY 14624
Toll-free: 800-716-SOFT (7638)
Telephone: 585-594-4621
E-mail: barbsoft@rochester.rr.com
Website: https://trisomy.org/
Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Surrey
RH8 9EE
United Kingdom
Telephone: +44 (0)1883 723356
E-mail: info@rarechromo.org
Website: https://www.rarechromo.org/

Do you know of an organization? We want to hear from you.

Living With Living With

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

The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More Learn More

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

MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
Genetics Home Reference (GHR) contains information on Trisomy 13. This website is maintained by the National Library of Medicine.
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.

GARD Answers GARD Answers

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

Have a question? Contact a GARD Information Specialist.

References References

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