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{{Infobox medical condition (new)
'''Lenz-Majewski syndrome''' is a skin condition characterized by hyperostosis, craniodiaphyseal dysplasia, dwarfism, [[cutis laxa]], proximal symphalangism, syndactyly, brachydactyly, mental retardation, 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 0721629210.</ref>{{rp|571}}▼
| name = Lenz–Majewski syndrome
| synonyms = Lenz–Majewski hyperostotic dwarfism (LMHD)<ref>{{cite web |title=OMIM Entry - # 151050 - LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; LMHD |url=https://omim.org/entry/151050 |website=omim.org |accessdate=14 March 2019 |language=en-us}}</ref>
| 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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▲'''
==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]].<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>
==See also==
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{{reflist}}
== External links ==
{{Medical resources
| DiseasesDB = 32264
| ICD10 = Q87.1
| ICD9 =
| ICDO =
| OMIM = 151050
| MedlinePlus =
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| MeshID = C537115
}}
* {{WhoNamedIt|synd|1653}}
{{DEFAULTSORT:Lenz-Majewski syndrome}}
[[Category:Genodermatoses]]
[[Category:Genetic disorders with OMIM but no gene]]
[[Category:Syndromes]]
{{Genodermatoses-stub}}
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