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| Disease found: | Dyskeratosis Congenita |
| Current as of: | October 8, 2024 |
| Disease Overview: | A rare genetic form of bone marrow failure, the inability of the marrow to produce sufficient blood cells that can be inherited X-linked, autosomal recessive, or autosomal dominant [more info] |
| Signs and Symptoms: | Reticulate hyperpigmentation, nails hypoplasia, bone marrow failure [more info] |
| Diagnosis: | Short telomere length and molecular genetic tests to determine mutations in the DKC1, TERC, TERT, TINF2 NHP2, or NOP10 gene can confirm a diagnosis of dyskeratosis congenita. [more info] |
| Treatment: | Supportive Therapy [more info] |
| Clinical Management: | Specialist referrals and medication therapy [more info] |
| Referral: | No specific physicians specialize in this condition but NORD recommends various rare disease clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Various clinical studies currently recruiting |