Kenny-Caffey syndrome type 2

Common Name(s)

Kenny-Caffey syndrome type 2

Kenny-Caffey syndrome type 2 is a genetic disorder characterized by abnormalities affecting the skeleton, the head, and the eyes. Recurrent episodes of hypocalcemia in the blood are common.  Intelligence is normal. Inheritance in most cases is autosomal dominant.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Kenny-Caffey syndrome type 2" 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 "Kenny-Caffey syndrome type 2" returned 1 free, full-text research articles on human participants. First 3 results:

A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2.
 

Author(s): Tsuyoshi Isojima, Koichiro Doi, Jun Mitsui, Yoichiro Oda, Etsuro Tokuhiro, Akihiro Yasoda, Tohru Yorifuji, Reiko Horikawa, Jun Yoshimura, Hiroyuki Ishiura, Shinichi Morishita, Shoji Tsuji, Sachiko Kitanaka

Journal: J. Bone Miner. Res.. 2014 Apr;29(4):992-8.

 

Kenny-Caffey syndrome (KCS) is a rare dysmorphologic syndrome characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular bones, delayed closure of anterior fontanelle, eye abnormalities, and hypoparathyroidism. The autosomal dominant form of ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

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The terms "Kenny-Caffey syndrome type 2" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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