Catel Manzke Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Catel Manzke Syndrome is not the name you expected.
Catel-Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index fingers and the classic features of Pierre Robin sequence. Affected individuals have an extra bone at the base of the index that causes the index fingers to be locked in a bent position (clinodactyly). Pierre Robin sequence refers to abnormalities that may occur as a distinct syndrome or as part of another underlying disorder. Pierre Robin sequence is characterized by an unusually small jaw (micrognathia), downward displacement or retraction of the tongue (glossoptosis), and incomplete closure of the roof of the mouth (cleft palate). A variety of additional physical findings can also be present. The specific symptoms can vary from one person to another. Alterations (mutations) in the TGDS gene have been identified in individuals with Catel-Manzke syndrome.
Catel-Manzke syndrome was first described in the medical literature in 1961 by Dr. Catel and later further evaluated by Dr. Manzke in 1966. The disorder was originally referred to as a palatodigital syndrome, but because cleft palate does not always occur, Dr. Manzke suggested replacing palatodigital syndrome with micrognathia-digital syndrome.
American Cleft Palate-Craniofacial Association
- 1504 East Franklin Street
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- Chapel Hill, NC 27514-2820
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- Website: http://www.cleftline.org
American Heart Association
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Genetic and Rare Diseases (GARD) Information Center
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- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
March of Dimes
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- White Plains, NY 10605
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- Fax: (914)997-4763
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NIH/National Heart, Lung and Blood Institute
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- Bethesda, MD 20892-0105
- Tel: (301)592-8573
- Fax: (301)251-1223
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- Website: http://www.nhlbi.nih.gov/
Pierre Robin Network
- 3604 Biscayne
- Quincy, IL 62305
- Tel: (217)224-0698
- Fax: (217)224-2867
- Email: email@example.com
- Website: http://www.pierrerobin.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
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This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Last Updated: 12/8/2015
Copyright 2015 National Organization for Rare Disorders, Inc.
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