Hematology · Hematology / Bone marrow failure
Dyskeratosis congenita
also: Zinsser–Cole–Engman syndrome
Telomere biology disorder with mucocutaneous triad and marrow failure.
- Specialty
- Hematology
- Subspecialty
- Hematology / Bone marrow failure
- Sex & age distribution
- Male: affected, X-linked more severe; Female: affected; Children: yes, mucocutaneous signs in first decade
- Gene(s) involved
- ACD, CTC1, DKC1, NAF1, NHP2, NOP10, PARN, RTEL1, STN1, TERC, TERT, TINF2, WRAP53
- Alternative names & eponyms
- Zinsser–Cole–Engman syndrome
Etiology & mechanism
Telomerase and shelterin dysfunction cause premature telomere shortening.
Gene(s) involved (13)
Symptoms & signs (8)
In plain terms, someone with Dyskeratosis congenita may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Revesz syndrome
bone marrow failure, nail dystrophy
1 shared
Bazex syndrome
nail dystrophy
1 shared
Hay–Wells syndrome
nail dystrophy
1 shared
Hereditary spastic paraplegia type 23
premature graying
1 shared
Hermansky–Pudlak syndrome
pulmonary fibrosis
1 shared
Hoyeraal–Hreidarsson syndrome
bone marrow failure
1 shared
Jeune syndrome
liver disease
1 shared
Naegeli–Franceschetti–Jadassohn syndrome
nail dystrophy
1 shared
Olmsted syndrome
nail dystrophy
1 shared
Rapp–Hodgkin syndrome
nail dystrophy
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