Zimmermann–Laband syndrome

Zimmermann–Laband syndrome
Zimmerman–Laband syndrome has an autosomal dominant pattern of inheritance
Specialty Medical genetics Edit this on Wikidata

Zimmermann–Laband syndrome (ZLS),[1] also known as Laband–Zimmermann syndrome,[2] and Laband's syndrome,[3] is an extremely rare[4] autosomal dominant[5] congenital disorder.

Symptoms

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.[3][8] The term Zimmermann–Laband was coined by Carl Jacob Witkop in 1971.[8]

Inheritance

Zimmerman–Laband syndrome is inherited in an autosomal dominant pattern. This means the defective gene is located on an autosome, and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.

The condition is caused by mutations in a potassium channel gene – KCNH1.[9]

See also

References

  1. ↑ Zimmermann–Laband Syndrome – What does ZLS stand for? Acronyms and abbreviations by the Free Online Dictionary
  2. ↑ Bolognia, Jean L; et al. (2007). Dermatology. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  3. 1 2 Laband Syndrome Archived September 27, 2007, at the Wayback Machine.
  4. ↑ Zimmerman Laband syndrome; Fibromatosis gingival, with abnormal fingers, fingernails, nose and ears, and splenomegaly at NIH's Office of Rare Diseases
  5. ↑ 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.
  6. ↑ 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.
  7. ↑ Cat.Inist
  8. 1 2 3 synd/3783 at Who Named It?
  9. ↑ 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
Classification
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