Lenz-Majewski syndrome

Lenz-Majewski syndrome, also called Lenz-Majewski hyperostotic dwarfism, is a rare genetic condition marked by hardened, overgrown bone, or hyperostosis, skull and facial skeletal abnormalities, short stature, loose redundant skin, fused finger joints, webbed or shortened fingers, intellectual disability, underdeveloped tooth enamel and widely spaced eyes. It is caused by a missense mutation that makes the enzyme phosphatidylserine synthase 1 overactive, disrupting bone metabolism, and it was the first human disease linked to disrupted phosphatidylserine metabolism when discovered. It is inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene is enough to cause the condition.