Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene.
Comprehensive, easy-to-understand information about this condition
How we create this content →Inheritance patterns describe how genetic conditions are passed from parents to children.
Inheritance patterns describe how genetic conditions are passed from parents to children.
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Inheritance patterns describe how genetic conditions are passed from parents to children.
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about acrofacial dysostosis Cincinnati type
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 1 company has orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.