autosomal dominant dyskeratosis congenita 2

A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33.

Signs and symptoms

• Abnormality of the dentition
• Esophageal stricture
• Nail dysplasia
• Osteoporosis
• Failure to thrive
• Bone marrow hypocellularity
• Palmoplantar hyperkeratosis
• Premature graying of hair
• Dilated cardiomyopathy
• Reticulated skin pigmentation

Also known as: DKCA2