Other Names for this Disease
- Hoyeraal-Hreidarsson syndrome
- Zinsser-Engman-Cole 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.
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- 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) 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.
- 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.
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.