GTR Home > Conditions/Phenotypes > Dyskeratosis congenita autosomal dominant

Disease characteristics

Excerpted from the GeneReview: Dyskeratosis Congenita
Dyskeratosis congenita (DC), a telomere biology disorder, is characterized by a classic triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia. However, the classic triad may not be present in all individuals. People with DC are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML), solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include: abnormal pigmentation changes not restricted to the upper chest and neck, eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), and dental abnormalities (caries, periodontal disease, taurodauntism). Although most persons with DC have normal psychomotor development and normal neurologic function, significant developmental delay is present in the two variants in which additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome). Onset and progression of manifestations of DC vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.

Available tests

26 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes and Related conditions for additional relevant tests.

Associated genes

Clinical features

Help
  • Alopecia
  • Thrombocytopenia
  • Nail pits
  • Anemia
  • Premature graying of hair
  • Premature loss of teeth
  • Reticular hyperpigmentation
  • Carious teeth
  • Myelodysplasia
  • Lymphopenia
  • Osteoporosis
  • Retinopathy
  • Ataxia
  • Cerebellar hypoplasia
  • Specific learning disability
  • Cirrhosis
  • Ridged nail
  • Aplastic anemia
  • Pulmonary fibrosis
  • Oral leukoplakia
  • Dermal atrophy
  • Bone marrow hypocellularity
  • Interstitial pneumonitis
  • Squamous cell carcinoma of the skin
  • Sparse hair
  • Nail dystrophy
Show all (26)

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Write to the Help Desk