Other Names for this Disease
- Zinsser-Engman-Cole syndrome
- Hoyeraal-Hreidarsson syndrome
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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.
- 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.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.
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
- 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.