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Diseases

Genetic and Rare Diseases Information Center (GARD)

Kenny-Caffey syndrome type 2


Other Names for this Disease
  • Autosomal dominant Kenny-Caffey syndrome
  • Dwarfism, cortical thickening of tubular bones and transient hypocalcemia
  • KCS2
  • Kenny-Caffey syndrome, autosomal dominant
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Overview

Kenny-Caffey syndrome type 2 is a genetic disorder characterized by abnormalities affecting the skeleton, the head, and the eyes.[1][2] Recurrent episodes of hypocalcemia in the blood are common.[2] Intelligence is normal. Inheritance in most cases is autosomal dominant.[1]
Last updated: 1/21/2010

References

  1. Kenny-Caffey Syndrome, Type 2. Online Mendelian Inheritance in Man (OMIM). 2009; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=127000. Accessed 1/21/2010.
  2. Diaz, GA. Kenny-Caffey Syndrome. NORD Guide to Rare Disorders. Philadelphia, PA: Lippincott Williams & Wilkins; 2003;
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Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Kenny-Caffey syndrome type 2. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Other Names for this Disease
  • Autosomal dominant Kenny-Caffey syndrome
  • Dwarfism, cortical thickening of tubular bones and transient hypocalcemia
  • KCS2
  • Kenny-Caffey syndrome, autosomal dominant
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.