Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial po...
Comprehensive, easy-to-understand information about this condition
How we create this content →Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
The documentation surrounding trisomy 13 is limited primarily due to its extreme rarity, with a prevalence of only 1-9 in 1,000,000. This rarity restricts the scope of systematic clinical studies, making comprehensive data collection challenging. Furthermore, the complexity of the condition and its phenotypic overlap with other syndromes complicate the understanding and characterization of its clinical features.
The clinical features of trisomy 13 include a range of significant physical anomalies. Commonly observed traits are postaxial hand polydactyly (80-99% of cases), intrauterine growth retardation (80-99%), and low-set ears (80-99%). Other notable features include hypotonia, malar flattening, and various cardiac defects such as ventricular and atrial septal defects. These anomalies contribute to the severe psychomotor retardation often seen in affected individuals.
To navigate trisomy 13, consider seeking a geneticist or a pediatric specialist with experience in congenital anomalies and chromosomal disorders. They can provide tailored guidance and support. Additionally, you may find valuable resources through patient organizations such as the Support Organization for Trisomy 13/18 and Related Disorders (https://soft.org.uk) and the Support Organization for Trisomy 18, 13, and Related Disorders (https://trisomy.org). Participating in a patient registry or natural history study, if available, could also be beneficial for tracking the condition's progression and contributing to research.
Currently, there are three active clinical trials focused on trisomy 13. These trials aim to explore various aspects of the condition and potential interventions. For more information about ongoing studies, you can visit ClinicalTrials.gov and search for trisomy 13: https://clinicaltrials.gov/search?cond=trisomy%2013. While there are no orphan drugs designated specifically for this condition, the active research may provide insights into management strategies.
Actionable guidance for navigating care for trisomy 13
To navigate trisomy 13, consider seeking a geneticist or a pediatric specialist with experience in congenital anomalies and chromosomal disorders. They can provide tailored guidance and support. Additionally, you may find valuable resources through patient organizations such as the Support Organization for Trisomy 13/18 and Related Disorders (https://soft.org.uk) and the Support Organization for Trisomy 18, 13, and Related Disorders (https://trisomy.org). Participating in a patient registry or natural history study, if available, could also be beneficial for tracking the condition's progression and contributing to research.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the trisomy 13 community
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Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 8, 2026
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
1 peer-reviewed source from PubMed
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.