Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe d...
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation surrounding Pfeiffer-type cardiocranial syndrome is limited due to its extreme rarity, affecting fewer than ten individuals globally. This scarcity results in minimal systematic clinical studies and a lack of established genetic insights. Consequently, the understanding of the condition is still evolving, and ongoing research is vital for better characterization.
The key clinical features of Pfeiffer-type cardiocranial syndrome include global developmental delay (80-99% of cases), growth delay (80-99%), and sagittal craniosynostosis (80-99%). Other notable features are intrauterine growth retardation, temporomandibular joint ankylosis, micrognathia, and low-set ears, which also occur frequently. These features contribute to the complex clinical presentation that requires multidisciplinary management.
To navigate the complexities of Pfeiffer-type cardiocranial syndrome, consider consulting with specialists such as pediatric cardiologists and craniofacial surgeons who have experience with congenital heart defects and craniosynostosis. While there are no specific patient organizations for this condition, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, exploring opportunities for participation in clinical trials could be beneficial for gaining access to emerging research and support.
Currently, there are no orphan drugs designated for Pfeiffer-type cardiocranial syndrome. However, there is one active clinical trial that may provide insights into the condition and potential management strategies. For more information about this trial, please visit the ClinicalTrials.gov page: https://clinicaltrials.gov/search?cond=cardiocranial%20syndrome%2C%20Pfeiffer%20type. Participation in clinical trials can offer hope and contribute to advancing knowledge about this rare disorder.
Actionable guidance for navigating care for cardiocranial syndrome, Pfeiffer type
To navigate the complexities of Pfeiffer-type cardiocranial syndrome, consider consulting with specialists such as pediatric cardiologists and craniofacial surgeons who have experience with congenital heart defects and craniosynostosis. While there are no specific patient organizations for this condition, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, exploring opportunities for participation in clinical trials could be beneficial for gaining access to emerging research and support.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation surrounding Pfeiffer-type cardiocranial syndrome is limited due to its extreme rarity, affecting fewer than ten individuals globally. This scarcity results in minimal systematic clinical studies and a lack of established genetic insights. Consequently, the understanding of the condition is still evolving, and ongoing research is vital for better characterization.
The key clinical features of Pfeiffer-type cardiocranial syndrome include global developmental delay (80-99% of cases), growth delay (80-99%), and sagittal craniosynostosis (80-99%). Other notable features are intrauterine growth retardation, temporomandibular joint ankylosis, micrognathia, and low-set ears, which also occur frequently. These features contribute to the complex clinical presentation that requires multidisciplinary management.
To navigate the complexities of Pfeiffer-type cardiocranial syndrome, consider consulting with specialists such as pediatric cardiologists and craniofacial surgeons who have experience with congenital heart defects and craniosynostosis. While there are no specific patient organizations for this condition, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, exploring opportunities for participation in clinical trials could be beneficial for gaining access to emerging research and support.
Currently, there are no orphan drugs designated for Pfeiffer-type cardiocranial syndrome. However, there is one active clinical trial that may provide insights into the condition and potential management strategies. For more information about this trial, please visit the ClinicalTrials.gov page: https://clinicaltrials.gov/search?cond=cardiocranial%20syndrome%2C%20Pfeiffer%20type. Participation in clinical trials can offer hope and contribute to advancing knowledge about this rare disorder.
Actionable guidance for navigating care for cardiocranial syndrome, Pfeiffer type
To navigate the complexities of Pfeiffer-type cardiocranial syndrome, consider consulting with specialists such as pediatric cardiologists and craniofacial surgeons who have experience with congenital heart defects and craniosynostosis. While there are no specific patient organizations for this condition, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, exploring opportunities for participation in clinical trials could be beneficial for gaining access to emerging research and support.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation surrounding Pfeiffer-type cardiocranial syndrome is limited due to its extreme rarity, affecting fewer than ten individuals globally. This scarcity results in minimal systematic clinical studies and a lack of established genetic insights. Consequently, the understanding of the condition is still evolving, and ongoing research is vital for better characterization.
The key clinical features of Pfeiffer-type cardiocranial syndrome include global developmental delay (80-99% of cases), growth delay (80-99%), and sagittal craniosynostosis (80-99%). Other notable features are intrauterine growth retardation, temporomandibular joint ankylosis, micrognathia, and low-set ears, which also occur frequently. These features contribute to the complex clinical presentation that requires multidisciplinary management.
To navigate the complexities of Pfeiffer-type cardiocranial syndrome, consider consulting with specialists such as pediatric cardiologists and craniofacial surgeons who have experience with congenital heart defects and craniosynostosis. While there are no specific patient organizations for this condition, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, exploring opportunities for participation in clinical trials could be beneficial for gaining access to emerging research and support.
Currently, there are no orphan drugs designated for Pfeiffer-type cardiocranial syndrome. However, there is one active clinical trial that may provide insights into the condition and potential management strategies. For more information about this trial, please visit the ClinicalTrials.gov page: https://clinicaltrials.gov/search?cond=cardiocranial%20syndrome%2C%20Pfeiffer%20type. Participation in clinical trials can offer hope and contribute to advancing knowledge about this rare disorder.
Actionable guidance for navigating care for cardiocranial syndrome, Pfeiffer type
To navigate the complexities of Pfeiffer-type cardiocranial syndrome, consider consulting with specialists such as pediatric cardiologists and craniofacial surgeons who have experience with congenital heart defects and craniosynostosis. While there are no specific patient organizations for this condition, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, exploring opportunities for participation in clinical trials could be beneficial for gaining access to emerging research and support.
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.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 7, 2026
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
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.
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