When to See a Specialist About Lenz-Majewski hyperostotic dwarfism

By Dr. Christian Ramirez, DO · 2026-10-29 · Genetic Medicine

Patients often ask us about Lenz-Majewski hyperostotic dwarfism. Here is what our Genetic Medicine clinicians want you to know.

About this topic

Topic: Lenz-Majewski hyperostotic dwarfism. A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1.

Mentioned in this article

• Doppler ultrasonography
• abuse deterrent agent therapy

Related care

• clinical whole-exome sequencing

This article is for general information and does not replace advice from your clinician.