Lenz–Majewski syndrome
Medical condition
From Wikipedia, the free encyclopedia
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
Other namesLenz–Majewski hyperostotic dwarfism (LMHD)[1]
| 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]