Pfeiffer syndrome
2006
Pfeiffer Syndrome Overview
publication
Evidence: moderate
Author Information
Author(s): Vogels Annick, Fryns Jean-Pierre
Primary Institution: Center for Human Genetics, University Hospital Leuven
Conclusion
Pfeiffer syndrome is a rare genetic disorder characterized by craniosynostosis and specific physical abnormalities, with varying severity among individuals.
Supporting Evidence
- Pfeiffer syndrome is caused by mutations in the FGFR1 or FGFR2 genes.
- The syndrome is divided into three clinical subtypes based on severity.
- Diagnosis can be confirmed through molecular genetic testing.
Takeaway
Pfeiffer syndrome is a condition that affects how some bones in the head and hands grow, leading to unique shapes and features. It can be passed down in families.
Limitations
The clinical variability of Pfeiffer syndrome can make diagnosis challenging, and prenatal diagnosis is often difficult.
Participant Demographics
Pfeiffer syndrome affects about 1 in 100,000 individuals.
Digital Object Identifier (DOI)
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