Zimmermann–Laband syndrome
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 an extremely rare[4] autosomal dominant[5] congenital disorder.
Symptoms and signs[]
Symptoms include , associated with hypoplasia of the distal phalanges, , 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 in 1971.[8]
Genetics[]
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]
Diagnosis[]
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Treatment[]
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See also[]
- List of cutaneous conditions
References[]
- ^ Bolognia, Jean L; et al. (2007). Dermatology. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
- ^ Jump up to: 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.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
- ^ Jump up to: a b c synd/3783 at Who Named It?
- ^ 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
External links[]
Classification | |
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External resources |
- Autosomal dominant disorders
- Skeletal disorders
- Rare diseases
- Syndromes
- Genodermatoses
- Genetic disorders with OMIM but no gene