Catel Manzke Syndrome

Common Name(s)

Catel Manzke Syndrome

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Catel Manzke 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 "Catel Manzke Syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
 

Author(s): Nadja Ehmke, Almuth Caliebe, Rainer Koenig, Sarina G Kant, Zornitza Stark, Valérie Cormier-Daire, Dagmar Wieczorek, Gabriele Gillessen-Kaesbach, Kirstin Hoff, Amit Kawalia, Holger Thiele, Janine Altmüller, Björn Fischer-Zirnsak, Alexej Knaus, Na Zhu, Verena Heinrich, Celine Huber, Izabela Harabula, Malte Spielmann, Denise Horn, Uwe Kornak, Jochen Hecht, Peter M Krawitz, Peter Nürnberg, Reiner Siebert, Hermann Manzke, Stefan Mundlos

Journal: Am. J. Hum. Genet.. 2014 Dec;95(6):763-70.

 

Catel-Manzke syndrome is characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. We describe the identification of homozygous and compound heterozygous mutations in TGDS in seven unrelated individuals with typical ...

Last Updated: 6 Dec 2014

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A male infant with the Catel-Manzke syndrome and dislocatable knees.
 

Author(s): E M Thompson, R M Winter, M J Williams

Journal: J. Med. Genet.. 1986 Jun;23(3):271-4.

 

A male infant is described with severe micrognathia and bilateral duplication of the proximal phalanges of the index fingers, an association which is characteristic of the Catel-Manzke syndrome. In addition, he had dislocatable knees, which have not been described in this disorder before.

Last Updated: 25 Jul 1986

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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 "Catel Manzke Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.