Lenz-Majewski Hyperostotic Dwarfism

**Semantic type:** Disease or Syndrome

**Definition:** A rare autosomal dominant condition caused by mutation(s) in the PTDSS1 gene, encoding phosphatidylserine synthase 1. This condition is characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial and dental anomalies, loose skin, distal limb anomalies, including brachydactyly and symphalangism, and progressive generalized hyperostosis that leads to severe growth retardation.

**Synonyms:** - Lenz-Majewski Syndrome - Lenz-Majewski dysplasia