| Zimmermann–Laband syndrome | |
|---|---|
| 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,[4] autosomal dominant[5] congenital disorder.
Etymology
The term Zimmermann–Laband was coined by Carl Jacob Witkop in 1971.[6]
Symptoms and signs
Clinical features include gingival fibromatosis, hypoplasia of the distal phalanges, nail dysplasia, joint hypermobility, and sometimes hepatosplenomegaly.[7] The nose and pinnae are usually large and poorly developed, which give individuals with the syndrome characteristic facial features. Intellectual disability may also be seen.[8][6] Gingival fibromatosis is usually present at birth or appears shortly thereafter.[2][6] Both males and females are equally affected.
Genetics
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 cause Temple–Baraitser syndrome, which shares similar clinical features. This has led 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]
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.
Diagnosis
Management
There is no known cure for ZLS. Affected individuals should see a pediatrician or adult physician at least annually to monitor growth, development and general health and well being. Developmental potential is maximized through the use of physiotherapy, occupational therapy and speech pathology. Anticonvulsants are used to control epilepsy, when present.[12]
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) - ^ a b c synd/3783 at Who Named It?
- ^ 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". Archived from the original on 2012-08-31. Retrieved 2007-04-21.
- ^ 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. hdl:2108/118197. PMID 25915598. S2CID 12060592.
- ^ 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. S2CID 253982917.
- ^ 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
- ^ Gabbett, Michael T. "KCNH1 Management". Human Disease Genes.
External links
This page was last edited on 8 January 2024, at 10:32