The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormal blistering of the skin | Very frequent (present in 80%-99% of cases) |
| Abnormality of neutrophils | Very frequent (present in 80%-99% of cases) |
| Abnormality of the fingernails | Very frequent (present in 80%-99% of cases) |
| Anemia | Very frequent (present in 80%-99% of cases) |
| Hypermelanotic macule | Very frequent (present in 80%-99% of cases) |
| Nail dystrophy | Very frequent (present in 80%-99% of cases) |
| Oral leukoplakia | Very frequent (present in 80%-99% of cases) |
| Thrombocytopenia | Very frequent (present in 80%-99% of cases) |
| Abnormality of coagulation | Frequent (present in 30%-79% of cases) |
| Abnormality of female internal genitalia | Frequent (present in 30%-79% of cases) |
| Abnormality of the pharynx | Frequent (present in 30%-79% of cases) |
| Anorectal anomaly | Frequent (present in 30%-79% of cases) |
| Aplasia/Hypoplasia of the skin | Frequent (present in 30%-79% of cases) |
| Aplastic/hypoplastic toenail | Frequent (present in 30%-79% of cases) |
| Bone marrow hypocellularity | Frequent (present in 30%-79% of cases) |
| Carious teeth | Frequent (present in 30%-79% of cases) |
| Cellular immunodeficiency | Frequent (present in 30%-79% of cases) |
| Esophageal stenosis | Frequent (present in 30%-79% of cases) |
| Hyperhidrosis | Frequent (present in 30%-79% of cases) |
| Hypodontia | Frequent (present in 30%-79% of cases) |
| Hypopigmented skin patches | Frequent (present in 30%-79% of cases) |
| Intrauterine growth retardation | Frequent (present in 30%-79% of cases) |
| Malabsorption | Frequent (present in 30%-79% of cases) |
| Periodontitis | Frequent (present in 30%-79% of cases) |
| Recurrent fractures | Frequent (present in 30%-79% of cases) |
| Recurrent respiratory infections | Frequent (present in 30%-79% of cases) |
| Rough bone trabeculation | Frequent (present in 30%-79% of cases) |
| Skin ulcer | Frequent (present in 30%-79% of cases) |
| Sparse hair | Frequent (present in 30%-79% of cases) |
| Taurodontia | Frequent (present in 30%-79% of cases) |
| Telangiectasia of the skin | Frequent (present in 30%-79% of cases) |
| Tracheoesophageal fistula | Frequent (present in 30%-79% of cases) |
| Urethral stenosis | Frequent (present in 30%-79% of cases) |
| Abnormality of the eyebrow | Occasional (present in 5%-29% of cases) |
| Abnormality of the eyelashes | Occasional (present in 5%-29% of cases) |
| Abnormality of the testis | Occasional (present in 5%-29% of cases) |
| Alopecia | Occasional (present in 5%-29% of cases) |
| Aseptic necrosis | Occasional (present in 5%-29% of cases) |
| Blepharitis | Occasional (present in 5%-29% of cases) |
| Cataract | Occasional (present in 5%-29% of cases) |
| Cerebral calcification | Occasional (present in 5%-29% of cases) |
| Cirrhosis | Occasional (present in 5%-29% of cases) |
| Diabetes mellitus | Occasional (present in 5%-29% of cases) |
| Displacement of the external urethral meatus | Occasional (present in 5%-29% of cases) |
| Hearing impairment | Occasional (present in 5%-29% of cases) |
| Hepatic failure | Occasional (present in 5%-29% of cases) |
| Hepatomegaly | Occasional (present in 5%-29% of cases) |
| Hypoplasia of the maxilla | Occasional (present in 5%-29% of cases) |
| Lymphoma | Occasional (present in 5%-29% of cases) |
| Neoplasm of the pancreas | Occasional (present in 5%-29% of cases) |
| Osteoporosis | Occasional (present in 5%-29% of cases) |
| Palmoplantar keratoderma | Occasional (present in 5%-29% of cases) |
| Premature graying of hair | Occasional (present in 5%-29% of cases) |
| Scoliosis | Occasional (present in 5%-29% of cases) |
| Skin vesicle | Occasional (present in 5%-29% of cases) |
| Splenomegaly | Occasional (present in 5%-29% of cases) |
| White hair | Occasional (present in 5%-29% of cases) |
| Aplastic anemia | - |
| Autosomal recessive inheritance | - |
| Esophageal stricture | - |
| Hepatic fibrosis | - |
| Hyperpigmentation of the skin | - |
| Increased lacrimation | - |
| Intellectual disability | - |
| Microcephaly | - |
| Microdontia | - |
| Nail dysplasia | - |
| Nasolacrimal duct obstruction | - |
| Phenotypic variability | - |
| Pterygium of nails | - |
| Pulmonary fibrosis | - |
| Small nail | - |
| Sparse eyelashes | - |
| Sparse scalp hair | - |
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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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.
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.
2016 Million Dollar Bike Ride Pilot Grant Program
August 15, 2016
2013 Epithelial Differentiation and Keratinization GRC/GRS
Saturday, May 11, 2013 -
Sunday, May 12, 2013
Location: Renaissance Tuscany Il Ciocco Resort,
Lucca (Barga),
Italy
Description: Novel findings in rare disease gene identification, together with studies on disease mechanisms in human patients and in mouse models, will suggest novel therapeutic approaches and form the basis for new prenatal tests. Investigators including Drs. Tolar and Oro will report on the results of bone marrow stem cell therapies and small molecule therapeutics in human patients with rare skin diseases; successful outcomes of these clinical trials will spur expansion of the use of these approaches in patients. Gene correction in patient derived iPS is an exciting potential therapeutic approach to both recessive and dominant genetic skin diseases. Drs. Roop and Christiano will provide updates on derivation and characterization of iPS from patients, and will discuss approaches to gene correction and differentiation of iPS into skin cell lineages for potential use in grafting procedures
Contact: Carl C. Baker, M.D., Ph.D., NIAMS(301) 594-5017ccb@nih.gov
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
The following diseases are related to Dyskeratosis congenita autosomal recessive. If you have a question about any of these diseases, you can contact GARD.
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.
