Zimmermann–Laband syndrome: Difference between revisions
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'''Zimmermann–Laband syndrome''' ('''ZLS'''),<ref>[http://acronyms.thefreedictionary.com/Zimmermann-Laband+Syndrome Zimmermann–Laband Syndrome – What does ZLS stand for? Acronyms and abbreviations by the Free Online Dictionary<!-- Bot generated title -->]</ref> is an extremely rare<ref>{{RareDiseases|385|Zimmerman Laband syndrome; Fibromatosis gingival, with abnormal fingers, fingernails, nose and ears, and splenomegaly}}</ref> [[autosomal]] [[Dominance relationship#Dominant allele|dominant]]<ref>{{cite journal |pmid=14514238 |date=August 2003 |author=Holzhausen, M |author2=Gonçalves, D |author3=Corrêa, Fde, O |author4=Spolidorio, Lc |author5=Rodrigues, Vc |author6=Orrico, Sr |title=A case of Zimmermann–Laband syndrome with supernumerary teeth |volume=74 |issue=8 |pages=1225–30 |issn=0022-3492 |journal=Journal of Periodontology |doi=10.1902/jop.2003.74.8.1225}}</ref> [[congenital disorder]]. |
'''Zimmermann–Laband syndrome''' ('''ZLS'''),<ref>[http://acronyms.thefreedictionary.com/Zimmermann-Laband+Syndrome Zimmermann–Laband Syndrome – What does ZLS stand for? Acronyms and abbreviations by the Free Online Dictionary<!-- Bot generated title -->]</ref> is two different conditions (ZLS, type 1 and ZLS, type 2) that share similar clinical features. It is an extremely rare [[phenotype]]<ref>{{RareDiseases|385|Zimmerman Laband syndrome; Fibromatosis gingival, with abnormal fingers, fingernails, nose and ears, and splenomegaly}}</ref> [[autosomal]] [[Dominance relationship#Dominant allele|dominant]]<ref>{{cite journal |pmid=14514238 |date=August 2003 |author=Holzhausen, M |author2=Gonçalves, D |author3=Corrêa, Fde, O |author4=Spolidorio, Lc |author5=Rodrigues, Vc |author6=Orrico, Sr |title=A case of Zimmermann–Laband syndrome with supernumerary teeth |volume=74 |issue=8 |pages=1225–30 |issn=0022-3492 |journal=Journal of Periodontology |doi=10.1902/jop.2003.74.8.1225}}</ref> [[congenital disorder]]. |
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==Symptoms and signs== |
==Symptoms and signs== |
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Symptoms include [[gingival fibromatosis]], associated with [[hypoplasia]] of the distal [[phalanges]], [[nail dysplasia]], joint hypermobility, and sometimes [[hepatosplenomegaly]].<ref>{{cite journal |vauthors=Atabek ME, Pirgon O, Sert A, Toy H |title=Zimmermann–Laband syndrome in an infant with an atypical histologic finding |journal=Pediatr. Dev. Pathol. |volume=8 |issue=6 |pages=654–7 |year=2005 |pmid=16267629 |doi=10.1007/s10024-005-0048-1 |s2cid=41832725 |url=https://www.semanticscholar.org/paper/f6520ddd9dd5a33b6475d4308035ec202557b530 }}</ref> The nose and [[pinna (anatomy)|pinnae]] are usually large and poorly developed, which gives the individuals with the syndrome abnormal facial characteristics. [[Mental retardation]] may also occur.<ref>[http://cat.inist.fr/?aModele=afficheN&cpsidt=2301171 Cat.Inist<!-- Bot generated title -->]</ref><ref name=WhoName>{{WhoNamedIt|synd|3783}}</ref> Both males and females are equally affected. Gingival fibromatosis is usually present at birth or appears short after.<ref name=PeaceHealth /><ref name=WhoName /> The term Zimmermann–Laband was coined by Carl [[Jacob Witkop]] in 1971.<ref name=WhoName /> |
Symptoms include [[Gingival enlargement|gingival fibromatosis]], associated with [[hypoplasia]] of the distal [[phalanges]], [[nail dysplasia]], joint hypermobility, and sometimes [[hepatosplenomegaly]].<ref>{{cite journal |vauthors=Atabek ME, Pirgon O, Sert A, Toy H |title=Zimmermann–Laband syndrome in an infant with an atypical histologic finding |journal=Pediatr. Dev. Pathol. |volume=8 |issue=6 |pages=654–7 |year=2005 |pmid=16267629 |doi=10.1007/s10024-005-0048-1 |s2cid=41832725 |url=https://www.semanticscholar.org/paper/f6520ddd9dd5a33b6475d4308035ec202557b530 }}</ref> The nose and [[pinna (anatomy)|pinnae]] are usually large and poorly developed, which gives the individuals with the syndrome abnormal facial characteristics. [[Mental retardation]] may also occur.<ref>[http://cat.inist.fr/?aModele=afficheN&cpsidt=2301171 Cat.Inist<!-- Bot generated title -->]</ref><ref name=WhoName>{{WhoNamedIt|synd|3783}}</ref> Both males and females are equally affected. Gingival fibromatosis is usually present at birth or appears short after.<ref name=PeaceHealth /><ref name=WhoName /> The term Zimmermann–Laband was coined by Carl [[Jacob Witkop]] in 1971.<ref name=WhoName /> |
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==Genetics== |
==Genetics== |
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Zimmerman–Laband syndrome is inherited in an autosomal dominant pattern. This means the |
Zimmerman–Laband syndrome is inherited in an [[dominance (genetics)|autosomal dominant]] pattern. This means the [[gene]] is located on an [[autosome]], and having only one copy of a gene mutation is sufficient to cause the disorder. Individuals with the disorder have a 50% chance of passing it on to their offspring in each pregnancy. |
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Type 1 ZLS is caused by pathogenic variants (mutations) in a potassium channel gene – [[KCNH1]].<ref name="ZLS">{{cite journal | vauthors = Kortüm F, Caputo V, Bauer CK, Stella L, Ciolfi A, Alawi M, Bocchinfuso G, Flex E, Paolacci S, Dentici ML, Grammatico P, Korenke GC, Leuzzi V, Mowat D, Nair LD, Nguyen TT, Thierry P, White SM, Dallapiccola B, Pizzuti A, Campeau PM, Tartaglia M, Kutsche K | display-authors = 6 | title = Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome | journal = Nature Genetics | volume = 47 | issue = 6 | pages = 661–667 | date = June 2015 | pmid = 25915598 | doi = 10.1038/ng.3282 }}</ref> Similar pathogenic variants in this gene were previously found to be cause [[Temple-Baraitser syndrome]], which shares similar clinical features. This has had many to believe that ZLS, type 1 and TBS are actually the same disorder.<ref>{{cite journal | vauthors = Bramswig NC, Ockeloen CW, Czeschik JC, van Essen AJ, Pfundt R, Smeitink J, Poll-The BT, Engels H, Strom TM, Wieczorek D, Kleefstra T, Lüdecke HJ | display-authors = 6 | title = 'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes | journal = Human Genetics | volume = 134 | issue = 10 | pages = 1089–1097 | date = October 2015 | pmid = 26264464 | doi = 10.1007/s00439-015-1590-1 }}</ref><ref name="Mégarbané2016">Mégarbané A, Al-Ali R, Choucair N, Lek M, Wang E, Ladjimi M, Rose CM, Hobeika R, Macary Y, Temanni R, Jithesh PV, Chouchane A, Sastry KS, Thomas R, Tomei S, Liu W, Marincola FM, MacArthur D, Chouchane L1 (2016) Temple-Baraitser Syndrome and Zimmermann–Laband Syndrome: one clinical entity? BMC Med Genet. 17(1):42. doi: 10.1186/s12881-016-0304-4</ref> |
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Type 2 ZLS is caused by pathogenic variants in the brain isoform of V-type proton ATPase subunit B, [[ATP6V1B2]].<ref name="ZLS" /> |
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==Diagnosis== |
==Diagnosis== |
Revision as of 01:02, 23 April 2022
Zimmermann–Laband syndrome | |
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Other names | Laband–Zimmermann syndrome,[1] and Laband's syndrome[2] |
Zimmerman–Laband syndrome has an autosomal dominant pattern of inheritance | |
Specialty | Medical genetics |
Zimmermann–Laband syndrome (ZLS),[3] is two different conditions (ZLS, type 1 and ZLS, type 2) that share similar clinical features. It is an extremely rare phenotype[4] autosomal dominant[5] congenital disorder.
Symptoms and signs
Symptoms include gingival fibromatosis, associated with hypoplasia of the distal phalanges, nail dysplasia, joint hypermobility, and sometimes hepatosplenomegaly.[6] The nose and pinnae are usually large and poorly developed, which gives the individuals with the syndrome abnormal facial characteristics. Mental retardation may also occur.[7][8] Both males and females are equally affected. Gingival fibromatosis is usually present at birth or appears short after.[2][8] The term Zimmermann–Laband was coined by Carl Jacob Witkop in 1971.[8]
Genetics
Zimmerman–Laband syndrome is inherited in an autosomal dominant pattern. This means the gene is located on an autosome, and having only one copy of a gene mutation is sufficient to cause the disorder. Individuals with the disorder have a 50% chance of passing it on to their offspring in each pregnancy.
Type 1 ZLS is caused by pathogenic variants (mutations) in a potassium channel gene – KCNH1.[9] Similar pathogenic variants in this gene were previously found to be cause Temple-Baraitser syndrome, which shares similar clinical features. This has had many to believe that ZLS, type 1 and TBS are actually the same disorder.[10][11]
Type 2 ZLS is caused by pathogenic variants in the brain isoform of V-type proton ATPase subunit B, ATP6V1B2.[9]
Diagnosis
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Treatment
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See also
References
- ^ Bolognia, Jean L; et al. (2007). Dermatology. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
- ^ a b Laband Syndrome Archived September 27, 2007, at the Wayback Machine
- ^ Zimmermann–Laband Syndrome – What does ZLS stand for? Acronyms and abbreviations by the Free Online Dictionary
- ^ Zimmerman Laband syndrome; Fibromatosis gingival, with abnormal fingers, fingernails, nose and ears, and splenomegaly at NIH's Office of Rare Diseases
- ^ Holzhausen, M; Gonçalves, D; Corrêa, Fde, O; Spolidorio, Lc; Rodrigues, Vc; Orrico, Sr (August 2003). "A case of Zimmermann–Laband syndrome with supernumerary teeth". Journal of Periodontology. 74 (8): 1225–30. doi:10.1902/jop.2003.74.8.1225. ISSN 0022-3492. PMID 14514238.
{{cite journal}}
: CS1 maint: multiple names: authors list (link) - ^ Atabek ME, Pirgon O, Sert A, Toy H (2005). "Zimmermann–Laband syndrome in an infant with an atypical histologic finding". Pediatr. Dev. Pathol. 8 (6): 654–7. doi:10.1007/s10024-005-0048-1. PMID 16267629. S2CID 41832725.
- ^ Cat.Inist
- ^ a b c synd/3783 at Who Named It?
- ^ a b Kortüm F, Caputo V, Bauer CK, Stella L, Ciolfi A, Alawi M, et al. (June 2015). "Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome". Nature Genetics. 47 (6): 661–667. doi:10.1038/ng.3282. PMID 25915598.
- ^ Bramswig NC, Ockeloen CW, Czeschik JC, van Essen AJ, Pfundt R, Smeitink J, et al. (October 2015). "'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes". Human Genetics. 134 (10): 1089–1097. doi:10.1007/s00439-015-1590-1. PMID 26264464.
- ^ Mégarbané A, Al-Ali R, Choucair N, Lek M, Wang E, Ladjimi M, Rose CM, Hobeika R, Macary Y, Temanni R, Jithesh PV, Chouchane A, Sastry KS, Thomas R, Tomei S, Liu W, Marincola FM, MacArthur D, Chouchane L1 (2016) Temple-Baraitser Syndrome and Zimmermann–Laband Syndrome: one clinical entity? BMC Med Genet. 17(1):42. doi: 10.1186/s12881-016-0304-4