Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral m...
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation surrounding trisomy 18 is limited due to its extreme rarity, affecting fewer than 10 individuals per million. This rarity results in fewer systematic clinical studies and a lack of established genetic markers. Additionally, the condition's phenotypic variability complicates comprehensive characterization, leaving many aspects of the condition under-researched. Despite these challenges, ongoing clinical observations and patient experiences continue to contribute valuable insights.
Individuals with trisomy 18 typically exhibit global developmental delay (80-99% prevalence), hypertonia, and significant growth delays. Other notable clinical features include intrauterine growth retardation, omphalocele, and congenital heart defects like ventricular and atrial septal defects. Limb anomalies such as deviations in finger formation and a narrow pelvis bone are also common. These features contribute to a complex clinical picture that requires multidisciplinary management.
To navigate trisomy 18, consider seeking care from a pediatrician with expertise in genetic syndromes, as well as specialists in developmental pediatrics and cardiology for congenital heart defects. Resources such as the E.WE Foundation and the Support Organization for Trisomy 18 offer valuable support and information. You can also explore participation in patient registries or natural history studies to contribute to ongoing research. For genetic counseling, the National Society of Genetic Counselors maintains a directory at findageneticcounselor.com.
Currently, there are no orphan drug designations for trisomy 18; however, there is one active clinical trial focused on the condition. For more information on this trial, you can visit ClinicalTrials.gov and search for trisomy 18. This trial may provide insights into potential management strategies and therapeutic interventions for affected individuals.
Actionable guidance for navigating care for trisomy 18
To navigate trisomy 18, consider seeking care from a pediatrician with expertise in genetic syndromes, as well as specialists in developmental pediatrics and cardiology for congenital heart defects. Resources such as the E.WE Foundation and the Support Organization for Trisomy 18 offer valuable support and information. You can also explore participation in patient registries or natural history studies to contribute to ongoing research. For genetic counseling, the National Society of Genetic Counselors maintains a directory at findageneticcounselor.com.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the trisomy 18 community
Helpful links for rare disease information and support
The documentation surrounding trisomy 18 is limited due to its extreme rarity, affecting fewer than 10 individuals per million. This rarity results in fewer systematic clinical studies and a lack of established genetic markers. Additionally, the condition's phenotypic variability complicates comprehensive characterization, leaving many aspects of the condition under-researched. Despite these challenges, ongoing clinical observations and patient experiences continue to contribute valuable insights.
Individuals with trisomy 18 typically exhibit global developmental delay (80-99% prevalence), hypertonia, and significant growth delays. Other notable clinical features include intrauterine growth retardation, omphalocele, and congenital heart defects like ventricular and atrial septal defects. Limb anomalies such as deviations in finger formation and a narrow pelvis bone are also common. These features contribute to a complex clinical picture that requires multidisciplinary management.
To navigate trisomy 18, consider seeking care from a pediatrician with expertise in genetic syndromes, as well as specialists in developmental pediatrics and cardiology for congenital heart defects. Resources such as the E.WE Foundation and the Support Organization for Trisomy 18 offer valuable support and information. You can also explore participation in patient registries or natural history studies to contribute to ongoing research. For genetic counseling, the National Society of Genetic Counselors maintains a directory at findageneticcounselor.com.
Currently, there are no orphan drug designations for trisomy 18; however, there is one active clinical trial focused on the condition. For more information on this trial, you can visit ClinicalTrials.gov and search for trisomy 18. This trial may provide insights into potential management strategies and therapeutic interventions for affected individuals.
Actionable guidance for navigating care for trisomy 18
To navigate trisomy 18, consider seeking care from a pediatrician with expertise in genetic syndromes, as well as specialists in developmental pediatrics and cardiology for congenital heart defects. Resources such as the E.WE Foundation and the Support Organization for Trisomy 18 offer valuable support and information. You can also explore participation in patient registries or natural history studies to contribute to ongoing research. For genetic counseling, the National Society of Genetic Counselors maintains a directory at findageneticcounselor.com.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the trisomy 18 community
Helpful links for rare disease information and support
The documentation surrounding trisomy 18 is limited due to its extreme rarity, affecting fewer than 10 individuals per million. This rarity results in fewer systematic clinical studies and a lack of established genetic markers. Additionally, the condition's phenotypic variability complicates comprehensive characterization, leaving many aspects of the condition under-researched. Despite these challenges, ongoing clinical observations and patient experiences continue to contribute valuable insights.
Individuals with trisomy 18 typically exhibit global developmental delay (80-99% prevalence), hypertonia, and significant growth delays. Other notable clinical features include intrauterine growth retardation, omphalocele, and congenital heart defects like ventricular and atrial septal defects. Limb anomalies such as deviations in finger formation and a narrow pelvis bone are also common. These features contribute to a complex clinical picture that requires multidisciplinary management.
To navigate trisomy 18, consider seeking care from a pediatrician with expertise in genetic syndromes, as well as specialists in developmental pediatrics and cardiology for congenital heart defects. Resources such as the E.WE Foundation and the Support Organization for Trisomy 18 offer valuable support and information. You can also explore participation in patient registries or natural history studies to contribute to ongoing research. For genetic counseling, the National Society of Genetic Counselors maintains a directory at findageneticcounselor.com.
Currently, there are no orphan drug designations for trisomy 18; however, there is one active clinical trial focused on the condition. For more information on this trial, you can visit ClinicalTrials.gov and search for trisomy 18. This trial may provide insights into potential management strategies and therapeutic interventions for affected individuals.
Actionable guidance for navigating care for trisomy 18
To navigate trisomy 18, consider seeking care from a pediatrician with expertise in genetic syndromes, as well as specialists in developmental pediatrics and cardiology for congenital heart defects. Resources such as the E.WE Foundation and the Support Organization for Trisomy 18 offer valuable support and information. You can also explore participation in patient registries or natural history studies to contribute to ongoing research. For genetic counseling, the National Society of Genetic Counselors maintains a directory at findageneticcounselor.com.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the trisomy 18 community
Helpful links for rare disease information and support
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
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
2 peer-reviewed sources 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.
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