National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Dyskeratosis congenita

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, that resembles the appearance of lace; 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 pulmonary fibrosis, bone marrow failure, aplastic anemia, myelodysplastic syndrome, leukemia, and other cancers. The severity of dyskeratosis congenita varies widely among affected individuals.[1][2] 

This condition is caused by pathogenic variants (mutations) in a number of different genes known to affect the length of the telomeres.[2] Teleomeres are structures found at the ends of chromosomes that protect the chromosomes from sticking together or breaking down. In most cells, the telomeres get shorter over time and eventually tell the cell to stop dividing.[1] The genes known to be involved in dyskeratosis congenita include DKC1, TERC, TERT, TINF2, ACD, CTC1, NHP2, NOP10, PARN, RTEL1, and WRAP53. Approximately 70% of those who meet the clinical diagnostic criteria for dyskeratosis congenita have a mutation in one of these genes.[2] How dyskeratosis congenita is inherited depends on which gene is involved.[1][2] Treatment is aimed at addressing the symptoms present in each individual.[2] 
Last updated: 9/22/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal blistering of the skin
Blistering, generalized
Blisters
[ more ] 		0008066
Abnormal fingernail morphology
Abnormal fingernails
Abnormality of the fingernails
[ more ] 		0001231
Abnormality of neutrophils 0001874
Anemia
Low number of red blood cells or hemoglobin
0001903
Hypermelanotic macule
Hyperpigmented spots
0001034
Nail dystrophy
Poor nail formation
0008404
Oral leukoplakia
Oral white patch
0002745
Thrombocytopenia
Low platelet count
0001873
30%-79% of people have these symptoms
Abnormal morphology of female internal genitalia 0000008
Abnormality of coagulation 0001928
Abnormality of the pharynx 0000600
Anorectal anomaly 0012732
Aplasia/Hypoplasia of the skin
Absent/small skin
Absent/underdeveloped skin
[ more ] 		0008065
Aplastic/hypoplastic toenail
Absent/small toenails
Absent/underdeveloped toenails
[ more ] 		0010624
Bone marrow hypocellularity
Bone marrow failure
0005528
Carious teeth
Dental cavities
Tooth cavities
Tooth decay
[ more ] 		0000670
Cellular immunodeficiency 0005374
Esophageal stenosis
Narrowing of the esophagus
0010450
Global developmental delay 0001263
Hyperhidrosis
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ] 		0000975
Hypodontia
Failure of development of between one and six teeth
0000668
Hypopigmented skin patches
Patchy loss of skin color
0001053
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ] 		0001511
Malabsorption
Intestinal malabsorption
0002024
Periodontitis 0000704
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ] 		0002757
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] 		0002205
Rough bone trabeculation 0100670
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Skin ulcer
Open skin sore
0200042
Sparse hair 0008070
Taurodontia 0000679
Telangiectasia of the skin 0100585
Tracheoesophageal fistula 0002575
Urethral stenosis
Narrowing of the urethra
0008661
5%-29% of people have these symptoms
Abnormal eyebrow morphology
Abnormality of the eyebrow
0000534
Abnormal eyelash morphology
Abnormal eyelashes
Abnormality of the eyelashes
Eyelash abnormality
[ more ] 		0000499
Abnormal testis morphology
Abnormality of the testis
0000035
Alopecia
Hair loss
0001596
Avascular necrosis
Death of bone due to decreased blood supply
0010885
Blepharitis
Inflammation of eyelids
0000498
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Cerebral calcification
Abnormal deposits of calcium in the brain
0002514
Cirrhosis
Scar tissue replaces healthy tissue in the liver
0001394
Diabetes mellitus 0000819
Displacement of the urethral meatus 0100627
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Hepatic failure
Liver failure
0001399
Hepatomegaly
Enlarged liver
0002240
Hypoplasia of the maxilla
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ] 		0000327
Lymphoma
Cancer of lymphatic system
0002665
Neoplasm of the pancreas
Cancer of the pancreas
Pancreatic tumor
[ more ] 		0002894
Osteoporosis 0000939
Palmoplantar keratoderma
Thickening of palms and soles
0000982
Premature graying of hair
Early graying
Premature graying
Premature greying
Premature hair graying
[ more ] 		0002216
Scoliosis 0002650
Skin vesicle 0200037
Splenomegaly
Increased spleen size
0001744
White hair 0011364
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • Orphanet lists international laboratories offering diagnostic testing for this condition.

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes palmoplantar keratoderma-spastic paralysis syndrome, nail-patella syndrome, autosomal dominant nail dysplasia, poikiloderma with netropenia, Fanconi anemia, Diamond-Blackfan anemia, Shwachman-Diamond Anemia, idiopathic aplastic anemia, idiopathic pulmonary fibrosis, Coats plus syndrome.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Dyskeratosis congenita. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

Patient Registry

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • 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.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • 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. 
  • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Dyskeratosis congenita in a table called Phenotypic Series. Each entry in OMIM includes 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 Dyskeratosis congenita. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Dyskeratosis congenita. Genetics Home Reference. March 2014; http://ghr.nlm.nih.gov/condition/dyskeratosis-congenita.
  2. Savage SA. Dyskeratosis Congenita. GeneReviews. May 26, 2016; https://www.ncbi.nlm.nih.gov/books/NBK22301/.