Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanDyskeratosis congenita
ORPHA:1775Disease
Also called DC · DKC · Zinsser-Engman-Cole syndrome
What it is
A rare ectodermal dysplasia syndrome that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.
Key facts
- Prevalence
- 1-9 / 1 000 000 (Europe)
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
9Common30–79%
29- Abnormality of coagulation
- Abnormality of the dentition
- Abnormality of the pharynx
- Abnormal morphology of female internal genitalia
- Anorectal anomaly
- Aplasia/Hypoplasia of the skin
- Aplastic/hypoplastic toenail
- Bone marrow hypocellularity
- Carious teeth
- Cellular immunodeficiency
- Esophageal stenosis
- Global developmental delay
- Hyperhidrosis
- Hypodontia
- Hypopigmented skin patches
- Intrauterine growth retardation
- Malabsorption
- Neoplasm
- Periodontitis
- Recurrent fractures
- Recurrent respiratory infections
- Rough bone trabeculation
- Short stature
- Skin ulcer
- Sparse hair
- Taurodontia
- Telangiectasia of the skin
- Tracheoesophageal fistula
- Urethral stenosis
Sometimes5–29%
24- Abnormal eyebrow morphology
- Abnormal eyelash morphology
- Abnormal testis morphology
- Alopecia
- Avascular necrosis
- Blepharitis
- Cataract
- Cerebral calcification
and 16 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.