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