Print friendly version
Other Names for this Disease
- Hoyeraal-Hreidarsson syndrome
- Zinsser-Engman-Cole syndrome
- Dyskeratosis congenita autosomal dominant
- Dyskeratosis congenita autosomal recessive
- Dyskeratosis congenita X-linked
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
mutations the DKC1, TERC, TERT, and TINF2 genes. Dyskeratosis congenita can have different inheritance patterns.Dyskeratosis congenita is a disorder that may affect many parts of the body. Three features are especially characteristic of this disorder: (1) fingernails and toenails that grow poorly or are abnormally shaped; (2) changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern often described as "lacy"; and (3) white patches inside the mouth (oral leukoplakia). People with dyskeratosis congenita also have an increased risk of developing several life-threatening conditions, including bone marrow failure, aplastic anemia, myelodysplastic syndrome, leukemia, and other cancers. The severity of dyskeratosis congenita varies widely among affected individuals. In about half of people, this condition is caused by
Last updated: 1/20/2012
- Dyskeratosis congenita. Genetics Home Reference. April 2011; http://ghr.nlm.nih.gov/condition/dyskeratosis-congenita.
Your Questions Answeredby the Genetic and Rare Diseases Information Center
Please contact us with your questions about Dyskeratosis congenita. We will answer your question and update these pages with new resources and information.
- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
- Genetics Home Reference (GHR) contains information on Dyskeratosis congenita. This website is maintained by the National Library of Medicine.
- The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public. Click on the link to view information on this topic.
- 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.
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss the different types of dyskeratosis congenita.
OMIM: Dyskeratosis congenita, autosomal dominant, 1
OMIM: Dyskeratosis congenita, autosomal dominant, 2
OMIM: Dyskeratosis congenita, autosomal dominant, 3
OMIM: Dyskeratosis congenita, autosomal recessive, 1
OMIM: Dyskeratosis congenita, autosomal recessive, 2
OMIM: Dyskeratosis congenita, autosomal recessive, 3
OMIM: Dyskeratosis congenita, autosomal recessive, 4
OMIM: Dyskeratosis congenita, X-linked
In Depth Information
- 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 Dyskeratosis congenita. Click on the link to view a sample search on this topic.