Zimmerman-Laband syndrome

Zimmerman-Laband syndrome

Infobox_Disease
Name = Zimmerman-Laband syndrome


Caption =
DiseasesDB = 34028
ICD10 =
ICD9 =
ICDO =
OMIM = 135500
MedlinePlus =
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Zimmerman-Laband syndrome (ZLS), [ [http://acronyms.thefreedictionary.com/Zimmermann-Laband+Syndrome Zimmermann-Laband Syndrome - What does ZLS stand for? Acronyms and abbreviations by the Free Online Dictionary ] ] also known as Laband's Syndrome, [http://www.peacehealth.org/kbase/nord/nord1063.htm Laband Syndrome ] ] is an extremely rare [RareDiseases|385|Zimmerman Laband syndrome; Fibromatosis gingival, with abnormal fingers, fingernails, nose and ears, and splenomegaly] autosomal dominant [cite journal |pmid=14514238 |year=2003 |month=Aug |author=Holzhausen, M; Gonçalves, D; Corrêa, Fde, O; Spolidorio, Lc; Rodrigues, Vc; Orrico, Sr |title=A case of Zimmermann-Laband syndrome with supernumerary teeth |volume=74 |issue=8 |pages=1225–30 |issn=0022-3492 |journal=Journal of periodontology |doi=10.1902/jop.2003.74.8.1225] congenital disorder.

ymptoms

Symptoms include gingival fibromatosis, associated with hypoplasia of the distal phalanges, nail dysplasia, joint hypermobility, and sometimes hepatosplenomegaly. [cite journal |author=Atabek ME, Pirgon O, Sert A, Toy H |title=Zimmermann-Laband syndrome in an infant with an atypical histologic finding |journal=Pediatr. Dev. Pathol. |volume=8 |issue=6 |pages=654–7 |year=2005 |pmid=16267629 |doi=10.1007/s10024-005-0048-1 |url=http://www.springerlink.com/content/lr2j642757153576/] 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. [ [http://cat.inist.fr/?aModele=afficheN&cpsidt=2301171 Cat.Inist ] ] WhoNamedIt|synd|3783] Both males and females are equally affected. Gingival fibromatosis is usually present at birth or appears short after. The term Zimmermann-Laband was coined by Carl Jacob Witkop in 1971.

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.

References


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