Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Card...
Comprehensive, easy-to-understand information about this condition
How we create this content →Documentation on biliary atresia with splenic malformation syndrome is limited due to its rarity and the complexity of its clinical features. As BASM affects a small number of individuals, systematic studies are scarce, making comprehensive clinical characterization challenging. The overlapping symptoms with other conditions further complicate the understanding of this syndrome. Despite these challenges, ongoing research may shed light on its mechanisms and management.
To navigate your care effectively, consider consulting a pediatric gastroenterologist who specializes in liver diseases, particularly biliary atresia. While no specific patient organizations are identified for BASM, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, exploring opportunities for participation in natural history studies or registries may be beneficial for tracking the condition's progression and contributing to broader knowledge.
Currently, two orphan drugs have been designated for the treatment of biliary atresia with splenic malformation syndrome: maralixibat and odevixibat. These drugs are still in development, and no clinical trials are actively recruiting participants at this time. For updates on research and potential future trials, you can search ClinicalTrials.gov for relevant studies. This ongoing research represents hope for improved management options in the future.
Actionable guidance for navigating care for biliary atresia with splenic malformation syndrome
To navigate your care effectively, consider consulting a pediatric gastroenterologist who specializes in liver diseases, particularly biliary atresia. While no specific patient organizations are identified for BASM, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, exploring opportunities for participation in natural history studies or registries may be beneficial for tracking the condition's progression and contributing to broader knowledge.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Documentation on biliary atresia with splenic malformation syndrome is limited due to its rarity and the complexity of its clinical features. As BASM affects a small number of individuals, systematic studies are scarce, making comprehensive clinical characterization challenging. The overlapping symptoms with other conditions further complicate the understanding of this syndrome. Despite these challenges, ongoing research may shed light on its mechanisms and management.
To navigate your care effectively, consider consulting a pediatric gastroenterologist who specializes in liver diseases, particularly biliary atresia. While no specific patient organizations are identified for BASM, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, exploring opportunities for participation in natural history studies or registries may be beneficial for tracking the condition's progression and contributing to broader knowledge.
Currently, two orphan drugs have been designated for the treatment of biliary atresia with splenic malformation syndrome: maralixibat and odevixibat. These drugs are still in development, and no clinical trials are actively recruiting participants at this time. For updates on research and potential future trials, you can search ClinicalTrials.gov for relevant studies. This ongoing research represents hope for improved management options in the future.
Actionable guidance for navigating care for biliary atresia with splenic malformation syndrome
To navigate your care effectively, consider consulting a pediatric gastroenterologist who specializes in liver diseases, particularly biliary atresia. While no specific patient organizations are identified for BASM, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, exploring opportunities for participation in natural history studies or registries may be beneficial for tracking the condition's progression and contributing to broader knowledge.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Documentation on biliary atresia with splenic malformation syndrome is limited due to its rarity and the complexity of its clinical features. As BASM affects a small number of individuals, systematic studies are scarce, making comprehensive clinical characterization challenging. The overlapping symptoms with other conditions further complicate the understanding of this syndrome. Despite these challenges, ongoing research may shed light on its mechanisms and management.
To navigate your care effectively, consider consulting a pediatric gastroenterologist who specializes in liver diseases, particularly biliary atresia. While no specific patient organizations are identified for BASM, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, exploring opportunities for participation in natural history studies or registries may be beneficial for tracking the condition's progression and contributing to broader knowledge.
Currently, two orphan drugs have been designated for the treatment of biliary atresia with splenic malformation syndrome: maralixibat and odevixibat. These drugs are still in development, and no clinical trials are actively recruiting participants at this time. For updates on research and potential future trials, you can search ClinicalTrials.gov for relevant studies. This ongoing research represents hope for improved management options in the future.
Actionable guidance for navigating care for biliary atresia with splenic malformation syndrome
To navigate your care effectively, consider consulting a pediatric gastroenterologist who specializes in liver diseases, particularly biliary atresia. While no specific patient organizations are identified for BASM, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, exploring opportunities for participation in natural history studies or registries may be beneficial for tracking the condition's progression and contributing to broader knowledge.
Consider asking your healthcare providers these condition-specific questions
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.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. 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.