Primary care
Recommendation 1
Specialist referrals and medication therapy
Dyskeratosis Congenita
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
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
Common symptoms
Reticulate hyperpigmentationnails hypoplasiabone marrow failure
When to suspect
Recommendation 1
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.
How to test
Recommendation 1
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.
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
Treatment
Recommendation 1
Supportive Therapy
Further support
Recommendation 1
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
Clinical Trials
Sources
No data available
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