The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of chromosome segregation||90%|
|Abnormality of pelvic girdle bone morphology||90%|
|Abnormality of the fontanelles or cranial sutures||90%|
|Atria septal defect||90%|
|Intrauterine growth retardation||90%|
|Low-set, posteriorly rotated ears||90%|
|Median cleft lip||90%|
|Neurological speech impairment||90%|
|Patent ductus arteriosus||90%|
|Postaxial hand polydactyly||90%|
|Single transverse palmar crease||90%|
|Ventricular septal defect||90%|
|Abnormal lung lobation||50%|
|Abnormality of female internal genitalia||50%|
|Abnormality of the antihelix||50%|
|Abnormality of the eyelashes||50%|
|Abnormality of the helix||50%|
|Abnormality of the middle ear||50%|
|Abnormality of the retinal vasculature||50%|
|Abnormality of the ribs||50%|
|Abnormality of the teeth||50%|
|Abnormality of the ureter||50%|
|Aplasia/Hypoplasia of the iris||50%|
|Deeply set eye||50%|
|Displacement of the external urethral meatus||50%|
|Polycystic kidney dysplasia||50%|
|Preauricular skin tag||50%|
|Sensorineural hearing impairment||50%|
People with trisomy 13 who survive infancy have severe intellectual disability and developmental delays, and are at increased risk for cancers.
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
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.
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.
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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
Is there any genetic link between trisomy 13, dextrocardia with situs inversus, and Hirschsprung's disease? I have had children affected with each of these conditions. What are the chances of having more children affected with these conditions in the future? See answer
Are there treatments for trisomy 13? What is the prognosis? What is life like for those who have this condition? See answer