Skeletal dysplasia

Gene: PTDSS1

Green List (high evidence)

Lenz-Majewski hyperostotic dwarfism is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial and dental anomalies, loose skin, and distal limb anomalies, particularly brachydactyly and symphalangism. Patients have multiple radiographic abnormalities due to progressive generalized hyperostosis that affects the cranium, vertebrae, and diaphyses of tubular bones, leading to severe growth retardation.

Multiple families. Gain-of-function is the established or expected mechanism of disease for these variants.

Created: 22 Feb 2022, 5:42 a.m. | Last Modified: 22 Feb 2022, 5:42 a.m.

Panel Version: 0.11063

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lenz-Majewski hyperostotic dwarfism MIM#151050

Publications

• 24241535
• 29341480
• 31403251