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Dyskeratosis congenita

rare

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia 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.

Identifiers
MONDO:0015780 Orphanet:1775
Part of
Ectodermal dysplasia syndromeHereditary neoplastic syndrome
Also known as
DC · DKC · Hoyeraal-Hreidarsson syndrome · Zinsser Cole Engman syndrome · Zinsser-Engman-Cole syndrome

Subtypes

All diseases Rare only
Disease Subtypes
DKC1-related disorder 2
Dyskeratosis congenita and related telomere biology disorder 2
Revesz syndrome
Autosomal recessive dyskeratosis congenita 4
Dyskeratosis congenita, autosomal dominant 1
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 3
Dyskeratosis congenita, autosomal dominant 4
Dyskeratosis congenita, autosomal dominant 6
Dyskeratosis congenita, autosomal recessive 1
Dyskeratosis congenita, autosomal recessive 2
Dyskeratosis congenita, autosomal recessive 3
Dyskeratosis congenita, autosomal recessive 6
Dyskeratosis congenita, autosomal recessive 7
Dyskeratosis congenita, autosomal recessive 8
Dyskeratosis congenita, digenic

Rare disease

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