Lenz–Majewski syndrome: Difference between revisions

| image =Autosomal dominant - en.svg

| caption =This condition is inherited in an autosomal dominant manner.

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| field =[[Medical genetics]]

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'''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]], mentalintellectual retardationdisability, [[enamel hypoplasia]] and [[hypertelorism]].<ref name="Andrews">James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. {{ISBN|0-7216-2921-0}}.</ref>{{rp|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]].<ref>{{Cite journal | doi=10.1038/ng.2829| pmid=24241535| title=Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome| journal=Nature Genetics| volume=46| issue=1| pages=70–76| year=2014| last1=Sousa| first1=Sérgio B.| last2=Jenkins| first2=Dagan| last3=Chanudet| first3=Estelle| last4=Tasseva| first4=Guergana| last5=Ishida| first5=Miho| last6=Anderson| first6=Glenn| last7=Docker| first7=James| last8=Ryten| first8=Mina| last9=Sa| first9=Joaquim| last10=Saraiva| first10=Jorge M.| last11=Barnicoat| first11=Angela| last12=Scott| first12=Richard| last13=Calder| first13=Alistair| last14=Wattanasirichaigoon| first14=Duangrurdee| last15=Chrzanowska| first15=Krystyna| last16=Simandlová| first16=Martina| last17=Van Maldergem| first17=Lionel| last18=Stanier| first18=Philip| last19=Beales| first19=Philip L.| last20=Vance| first20=Jean E.| last21=Moore| first21=Gudrun E.| hdl=10400.4/1596| s2cid=24824535| hdl-access=free}}</ref>

| DiseasesDB = 32264

| ICD10 = Q87.1

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| OMIM = 151050

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