An autosomal dominant syndrome caused by pathogenic variants in the SMAD4 gene, characterized by the combined features of juvenile polyposis syndrome (JPS) and hereditary hemorrhagic telangiectasia (H...
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation surrounding juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome is limited due to its rarity and the complexity of its clinical features. With fewer than 1 in 100,000 individuals affected, systematic studies are challenging. Additionally, the genetic basis was only recently clarified, and ongoing clinical characterization is needed to better understand the full spectrum of symptoms and management strategies.
To navigate your care effectively, consider consulting with a geneticist or a gastroenterologist with expertise in hereditary gastrointestinal syndromes. Genetic counseling is crucial given the identified SMAD4 gene involvement, and you can find resources at the National Society of Genetic Counselors (findageneticcounselor.com). While no patient organizations are currently identified, participating in natural history studies or registries may become available as research progresses. Staying informed about ongoing developments in treatment options is essential.
Currently, there are several orphan drugs designated for juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, including bevacizumab and pazopanib, among others. However, there are no active clinical trials reported at this time. For more information on potential clinical trials, you can search ClinicalTrials.gov using the condition name. This research landscape offers hope for future treatment options as more studies are initiated.
Actionable guidance for navigating care for juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
To navigate your care effectively, consider consulting with a geneticist or a gastroenterologist with expertise in hereditary gastrointestinal syndromes. Genetic counseling is crucial given the identified SMAD4 gene involvement, and you can find resources at the National Society of Genetic Counselors (findageneticcounselor.com). While no patient organizations are currently identified, participating in natural history studies or registries may become available as research progresses. Staying informed about ongoing developments in treatment options is essential.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation surrounding juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome is limited due to its rarity and the complexity of its clinical features. With fewer than 1 in 100,000 individuals affected, systematic studies are challenging. Additionally, the genetic basis was only recently clarified, and ongoing clinical characterization is needed to better understand the full spectrum of symptoms and management strategies.
To navigate your care effectively, consider consulting with a geneticist or a gastroenterologist with expertise in hereditary gastrointestinal syndromes. Genetic counseling is crucial given the identified SMAD4 gene involvement, and you can find resources at the National Society of Genetic Counselors (findageneticcounselor.com). While no patient organizations are currently identified, participating in natural history studies or registries may become available as research progresses. Staying informed about ongoing developments in treatment options is essential.
Currently, there are several orphan drugs designated for juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, including bevacizumab and pazopanib, among others. However, there are no active clinical trials reported at this time. For more information on potential clinical trials, you can search ClinicalTrials.gov using the condition name. This research landscape offers hope for future treatment options as more studies are initiated.
Actionable guidance for navigating care for juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
To navigate your care effectively, consider consulting with a geneticist or a gastroenterologist with expertise in hereditary gastrointestinal syndromes. Genetic counseling is crucial given the identified SMAD4 gene involvement, and you can find resources at the National Society of Genetic Counselors (findageneticcounselor.com). While no patient organizations are currently identified, participating in natural history studies or registries may become available as research progresses. Staying informed about ongoing developments in treatment options is essential.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation surrounding juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome is limited due to its rarity and the complexity of its clinical features. With fewer than 1 in 100,000 individuals affected, systematic studies are challenging. Additionally, the genetic basis was only recently clarified, and ongoing clinical characterization is needed to better understand the full spectrum of symptoms and management strategies.
To navigate your care effectively, consider consulting with a geneticist or a gastroenterologist with expertise in hereditary gastrointestinal syndromes. Genetic counseling is crucial given the identified SMAD4 gene involvement, and you can find resources at the National Society of Genetic Counselors (findageneticcounselor.com). While no patient organizations are currently identified, participating in natural history studies or registries may become available as research progresses. Staying informed about ongoing developments in treatment options is essential.
Currently, there are several orphan drugs designated for juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, including bevacizumab and pazopanib, among others. However, there are no active clinical trials reported at this time. For more information on potential clinical trials, you can search ClinicalTrials.gov using the condition name. This research landscape offers hope for future treatment options as more studies are initiated.
Actionable guidance for navigating care for juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
To navigate your care effectively, consider consulting with a geneticist or a gastroenterologist with expertise in hereditary gastrointestinal syndromes. Genetic counseling is crucial given the identified SMAD4 gene involvement, and you can find resources at the National Society of Genetic Counselors (findageneticcounselor.com). While no patient organizations are currently identified, participating in natural history studies or registries may become available as research progresses. Staying informed about ongoing developments in treatment options is essential.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
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.