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Trisomy 13, also known as Patau syndrome, is described in the packet definition as a chromosomal anomaly caused by the presence of an extra chromosome 13. The definition lists brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy), and severe psychomotor retardation as characteristic features. The packet classifies prevalence as rare, with an estimate of approximately 1 to 9 per million people. The packet lists complete and mosaic subtypes and identifies the cardiovascular, growth, nervous, and skeletal systems as affected.
The packet lists 59 phenotypes in total, of which 25 are itemized. Those labeled very frequent (80-99%) include, in the nervous system, severe intellectual disability, severe global developmental delay, cognitive impairment, hypotonia, seizure, and abnormal speech. Cardiovascular features at the same frequency include ventricular and atrial septal defects and patent ductus arteriosus. Eye and facial features include microphthalmia, anophthalmia, hypotelorism, low-set ears, median cleft upper lip, and cleft palate. Skeletal and growth-related features include postaxial hand polydactyly, intrauterine growth retardation, and abnormal pelvic girdle bone morphology. Cystic hygroma and hydrops fetalis are also listed as very frequent. Hydronephrosis is listed as frequent (30-79%).
According to the packet definition, trisomy 13 is caused by the presence of an extra chromosome 13. The packet lists complete and mosaic trisomy 13 as subtypes without further description. No genes or inheritance patterns are certified, so inheritance is not described here.
The packet certifies no diagnostic methods or criteria for trisomy 13, and diagnostic information is therefore not described here.
The packet certifies no foundational therapies and no FDA-approved treatments for trisomy 13. Treatment information is not certified in this packet.
4 trials found
The packet does not include natural history information for trisomy 13, so prognosis is not described here.
The packet lists three ClinicalTrials.gov records associated with trisomy 13. NCT07643896, sponsored by BillionToOne Inc., is titled as the ADVANCE study of a circulating fetal cell-based approach to non-invasive fetal risk assessment; it is listed as recruiting. NCT07165743, from Haseki Training and Research Hospital, is titled as an evaluation of fetal bladder emptying as a negative predictive marker for chromosomal abnormalities; it is listed as active, not recruiting. NCT06740162, the Physical Activity and Community EmPOWERment Project from the University of North Carolina, Chapel Hill, is listed as recruiting. Trial titles do not establish that any intervention is effective. The packet names two patient organizations: soft.org.uk and trisomy.org.
Data assembled from 5 of 12 sources · Last updated Nov 4, 2026, 5:37 PM UTC
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
European rare disease database
Genetic and Rare Diseases Info Center
AI-curated news mentioning trisomy 13
Updated Sep 15, 2026
A recent study evaluates the impact of screening programs on the prenatal diagnosis rates of trisomy 13 and 18 over 30 years. The findings highlight trends in detection rates, providing insights for future screening strategies.