# Pfeiffer syndrome

> acrocephalosyndactylia that has material basis in mutations in the FGFR1 and FGFR2 gene which results in premature fusion located in skull

**Wikidata**: [Q1286848](https://www.wikidata.org/wiki/Q1286848)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Pfeiffer_syndrome)  
**Source**: https://4ort.xyz/entity/pfeiffer-syndrome


## References

1. [Source](https://ddrare.nibiohn.go.jp/)
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome
5. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)