Lenz–Majewski syndrome

Lenz–Majewski syndrome (LMS), also known as Lenz–Majewski hyperostotic dwarfism (LMHD), is a skin condition characterized by hyperostosis, craniodiaphyseal dysplasia, dwarfism, cutis laxa, proximal symphalangism, syndactyly, brachydactyly, intellectual disability, enamel hypoplasia and hypertelorism.^[2]: 571

Lenz–Majewski syndrome
Other names	Lenz–Majewski hyperostotic dwarfism (LMHD)[1]
This condition is inherited in an autosomal dominant manner.
Specialty	Medical genetics

Genetics

In 2013, whole-exome sequencing showed that a missense mutation resulting in overactive phosphatidylserine synthase 1 was the cause of LMS, making it the first known human disease to be caused by disrupted phosphatidylserine metabolism. The researchers suggested a link between the condition and bone metabolism.^[3]

See also

• Skin lesion