# hypoplastic tibiae-postaxial polydactyly syndrome

> a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands

**Wikidata**: [Q17122962](https://www.wikidata.org/wiki/Q17122962)  
**Source**: https://4ort.xyz/entity/hypoplastic-tibiae-postaxial-polydactyly-syndrome


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)