Laband syndrome

Common Name(s)

Laband syndrome

Zimmermann-Laband syndrome is a rare disorder characterized by gingival fibromatosis, dysplastic or absent nails, hypoplasia of the distal phalanges, scoliosis, hepatosplenomegaly, hirsutism, and abnormalities of the cartilage of the nose and/or ears (summary by {3:Balasubramanian and Parker, 2010}). Genetic Heterogeneity of Zimmermann-Laband Syndrome Zimmermann-Laband syndrome-2 (ZLS2; {616455}) is caused by mutation in the ATP6V1B2 gene ({606939}) on chromosome 8p21.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Laband syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Laband syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
 

Author(s): André Mégarbané, Rashid Al-Ali, Nancy Choucair, Monko Lek, Ena Wang, Moncef Ladjimi, Catherine M Rose, Remy Hobeika, Yvette Macary, Ramzi Temanni, Puthen V Jithesh, Aouatef Chouchane, Konduru S Sastry, Remy Thomas, Sara Tomei, Wei Liu, Francesco M Marincola, Daniel MacArthur, Lotfi Chouchane

Journal:

 

KCNH1 encodes a voltage-gated potassium channel that is predominantly expressed in the central nervous system. Mutations in this gene were recently found to be responsible for Temple-Baraitser Syndrome (TMBTS) and Zimmermann-Laband syndrome (ZLS).

Last Updated: 31 Dec 1969

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Zimmerman-Laband syndrome: An unusually early presentation in a newborn girl.
 

Author(s): M Dumić, C Crawford, I Ivković, M Cvitanović, S Batinica

Journal: Croat. Med. J.. 1999 Mar;40(1):102-3.

 

We report on a female newborn, the youngest patient with Zimmermann-Laband syndrome hitherto reported. She had gingival hyperplasia, bulbous soft nose and ears, hypoplastic toenails, and hyperextensibility of the joints, as well as deep palmar and plantar creases, a sign not previously ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Laband syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Zimmermann-Laband syndrome with bilateral developmental cataract - a new association?
 

Author(s): N Shah, Y K Gupta, S Ghose

Journal: Int J Paediatr Dent. 2004 Jan;14(1):78-85.

 

An unusual case of Zimmermann-Laband syndrome in a young male child with an unreported association of bilateral developmental cataract is presented. The pathognomonic triad of gingival fibromatosis, aplastic or hypoplastic distal phalanges with absent nails, and enlargement of soft ...

Last Updated: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

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