Lenz-Majewski hyperostotic dysplasia
ORPHA:2658· ICD-10 Q87.1
Definition
A rare primary bone dysplasia characterized by growth delay, generalized and progressive craniotubular hyperostosis, intellectual disability, distinct craniofacial appearance, dental anomalies, loose skin, and distal-limb anomalies.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal