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Dyskeratosis congenita and other short telomere syndromes

Timothy S Olson, MD, PhD
Section Editor
Donald H Mahoney, Jr, MD
Deputy Editor
Jennifer S Tirnauer, MD


Dyskeratosis congenita (DC) is an inherited disorder characterized by bone marrow failure, cancer predisposition, and additional somatic abnormalities. DC and related short telomere syndromes are caused by mutations that interfere with normal maintenance of telomeres, the regions at the ends of the chromosomes that protect nucleated cells from the loss or gain of genetic material.

This topic discusses the evaluation, diagnosis, and management of DC and related short telomere syndromes.

Other inherited bone marrow failure syndromes including Fanconi anemia (FA), Shwachman-Diamond syndrome (SDS), Diamond-Blackfan anemia (DBA), congenital amegakaryocytic thrombocytopenia (CAMT), and a general approach to the diagnostic evaluation of unexplained bone marrow failure are presented separately.

FA – (See "Clinical manifestations and diagnosis of Fanconi anemia" and "Management and prognosis of Fanconi anemia".)

SDS – (See "Shwachman-Diamond syndrome".)


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Literature review current through: Apr 2017. | This topic last updated: Apr 19, 2017.
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