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MRI of cerebellar hypoplasia in an individual with Hoyeraal Hreidarsson syndrome. Arrow indicates the hypoplastic cerebellum.

Examples of the dyskeratosis congenita diagnostic triad
A. Skin pigmentation
B. Dysplastic fingernails and toenails
C. Oral leukoplakia

Schematic of the telomere and the proteins affected in dyskeratosis congenita and related telomere biology disorders
Colors refer to reported inheritance pattern in the coding genes of depicted proteins:
Red = X-linked
Blue = autosomal recessive
Yellow = autosomal dominant
Green = autosomal dominant and autosomal recessive inheritance reported
Gray = not known to cause human disease