Dyskeratosis congenita

Orpha code: 1775OMIM code: 616353

Definition

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.

Disease data
Classification

Disease

Synonyms
DC
DC
DKC
Zespół Zinssera, Engmana i Cole'a
DKC
Zinsser-Engman-Cole syndrome
ORPHA code
1775
OMIM code
616353
ICD10 code
Q82.8
ICD11 code
3A70.0

No additional description.

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