Lenz–Majewski syndrome explained

Lenz–Majewski syndrome
Synonyms:	Lenz–Majewski hyperostotic dwarfism (LMHD)^[1]
Field:	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]

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

Notes and References

1. Web site: OMIM Entry - # 151050 - LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; LMHD . omim.org . 14 March 2019 . en-us.
2. James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. .
3. 10.1038/ng.2829. 24241535. Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. Nature Genetics. 46. 1. 70–76. 2014. Sousa. Sérgio B.. Jenkins. Dagan. Chanudet. Estelle. Tasseva. Guergana. Ishida. Miho. Anderson. Glenn. Docker. James. Ryten. Mina. Sa. Joaquim. Saraiva. Jorge M.. Barnicoat. Angela. Scott. Richard. Calder. Alistair. Wattanasirichaigoon. Duangrurdee. Chrzanowska. Krystyna. Simandlová. Martina. Van Maldergem. Lionel. Stanier. Philip. Beales. Philip L.. Vance. Jean E.. Moore. Gudrun E.. 10400.4/1596. 24824535. free.