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Zimmermann-Laband syndrome

MedGen UID:
208656
•Concept ID:
C0796013
•
Disease or Syndrome
Synonym: Zimmerman Laband syndrome
SNOMED CT: Zimmermann-Laband syndrome (699447001); Laband-Zimmermann syndrome (699447001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0000200
OMIM®: 135500
OMIM® Phenotypic series: PS135500
Orphanet: ORPHA3473

Definition

A rare genetic multiple congenital anomalies syndrome characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVZimmermann-Laband syndrome
Follow this link to review classifications for Zimmermann-Laband syndrome in Orphanet.

Professional guidelines

PubMed

Phenotypic expansion of KCNH1-associated disorders to include isolated epilepsy and its associations with genotypes and molecular sub-regional locations.
Tian MQ, Li RK, Yang F, Shu XM, Li J, Chen J, Peng LY, Yu XH, Yang CJ
CNS Neurosci Ther 2023 Jan;29(1):270-281. Epub 2022 Oct 25 doi: 10.1111/cns.14001. PMID: 36285361Free PMC Article

Recent clinical studies

Therapy

Epilepsy in KCNH1-related syndromes.
Mastrangelo M, Scheffer IE, Bramswig NC, Nair LD, Myers CT, Dentici ML, Korenke GC, Schoch K, Campeau PM, White SM, Shashi V, Kansagra S, Van Essen AJ, Leuzzi V
Epileptic Disord 2016 Jun 1;18(2):123-36. doi: 10.1684/epd.2016.0830. PMID: 27267311

Prognosis

Zimmermann-Laband syndrome and infantile systemic hyalinosis: an enigma with two separate terms with overlapping features: a case report.
Owlia F, Navabazam A, Akhavan-Karbasi MH, Derakhshan Barjoei MM
BMC Pediatr 2023 Oct 13;23(1):506. doi: 10.1186/s12887-023-04344-z. PMID: 37828451Free PMC Article
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
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 L
BMC Med Genet 2016 Jun 10;17(1):42. doi: 10.1186/s12881-016-0304-4. PMID: 27282200Free PMC Article
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
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
Nat Genet 2015 Jun;47(6):661-7. Epub 2015 Apr 27 doi: 10.1038/ng.3282. PMID: 25915598
Current concepts on gingival fibromatosis-related syndromes.
Poulopoulos A, Kittas D, Sarigelou A
J Investig Clin Dent 2011 Aug;2(3):156-61. Epub 2011 Mar 15 doi: 10.1111/j.2041-1626.2011.00054.x. PMID: 25426785
Zimmermann-Laband syndrome with bilateral developmental cataract - a new association?
Shah N, Gupta YK, Ghose S
Int J Paediatr Dent 2004 Jan;14(1):78-85. doi: 10.1111/j.1365-263x.2004.00471.x. PMID: 14706033

Clinical prediction guides

ATP6V1B2-related epileptic encephalopathy.
Inuzuka LM, Macedo-Souza LI, Della-Rippa B, Monteiro FP, Delgado DS, Godoy LF, Ramos L, de Athayde Costa LS, Garzon E, Kok F
Epileptic Disord 2020 Jun 1;22(3):317-322. doi: 10.1684/epd.2020.1166. PMID: 32597767
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
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 L
BMC Med Genet 2016 Jun 10;17(1):42. doi: 10.1186/s12881-016-0304-4. PMID: 27282200Free PMC Article
Epilepsy in KCNH1-related syndromes.
Mastrangelo M, Scheffer IE, Bramswig NC, Nair LD, Myers CT, Dentici ML, Korenke GC, Schoch K, Campeau PM, White SM, Shashi V, Kansagra S, Van Essen AJ, Leuzzi V
Epileptic Disord 2016 Jun 1;18(2):123-36. doi: 10.1684/epd.2016.0830. PMID: 27267311
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
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
Nat Genet 2015 Jun;47(6):661-7. Epub 2015 Apr 27 doi: 10.1038/ng.3282. PMID: 25915598
Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.
Castori M, Valiante M, Pascolini G, Leuzzi V, Pizzuti A, Grammatico P
Eur J Med Genet 2013 Oct;56(10):570-6. Epub 2013 Aug 27 doi: 10.1016/j.ejmg.2013.08.004. PMID: 23994350

Recent systematic reviews

Syndromes with gingival fibromatosis: A systematic review.
Costa CRR, Braz SV, de Toledo IP, Martelli-Júnior H, Mazzeu JF, Guerra ENS, Coletta RD, Acevedo AC
Oral Dis 2021 May;27(4):881-893. Epub 2020 May 25 doi: 10.1111/odi.13369. PMID: 32335995

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