# Guttmacher syndrome

> Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias

**Wikidata**: [Q55781403](https://www.wikidata.org/wiki/Q55781403)  
**Source**: https://4ort.xyz/entity/guttmacher-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)