Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand...
Comprehensive, easy-to-understand information about this condition
How we create this content →Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Pfeiffer syndrome
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.