Zimmermann–Laband syndrome

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Zimmermann–Laband syndrome
Other namesLaband–Zimmermann syndrome,[1] and Laband's syndrome[2]
Zimmerman–Laband syndrome has an autosomal dominant pattern of inheritance
SpecialtyMedical genetics Edit this on Wikidata

Zimmermann–Laband syndrome (ZLS)

congenital disorder
.

Etymology

The term Zimmermann–Laband was coined by Carl Jacob Witkop in 1971.[6]

Symptoms and signs

Clinical features include

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

Anticonvulsants are used to control epilepsy, when present.[12]

See also

  • List of cutaneous conditions

References

  1. ISBN 978-1-4160-2999-1
    .
  2. ^ a b Laband Syndrome Archived September 27, 2007, at the Wayback Machine
  3. ^ Zimmermann–Laband Syndrome – What does ZLS stand for? Acronyms and abbreviations by the Free Online Dictionary
  4. ^ Zimmerman Laband syndrome; Fibromatosis gingival, with abnormal fingers, fingernails, nose and ears, and splenomegaly at NIH's Office of Rare Diseases
  5. PMID 14514238.{{cite journal}}: CS1 maint: multiple names: authors list (link
    )
  6. ^
    Who Named It?
  7. S2CID 41832725
    .
  8. ^ "Cat.Inist". Archived from the original on 2012-08-31. Retrieved 2007-04-21.
  9. ^
    S2CID 12060592
    .
  10. S2CID 253982917
    .
  11. ^ 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
  12. ^ Gabbett, Michael T. "KCNH1 Management". Human Disease Genes.

External links

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