# Lenz–Majewski syndrome

> Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis

**Wikidata**: [Q6523462](https://www.wikidata.org/wiki/Q6523462)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Lenz–Majewski_syndrome)  
**Source**: https://4ort.xyz/entity/lenz-majewski-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000156471/MONDO_0007892)