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Dyskeratosis congenita and related telomere biology disorder

MONDO:0800467

A dyskeratosis congenita caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.

Also known as: dyskeratosis congenita and related telomere biology disorder

44 clinical trials for this condition and its sub-types.

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Sub-types

Dyskeratosis congenita, autosomal recessive 5 (0) Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 (0)

Broader categories

Disease (618) Hereditary disease (172) Skin disorder (123) Inherited disease susceptibility (69) Hereditary neoplastic syndrome (57) Syndromic disease (24) Human disease (14) Dyskeratosis congenita (12) Neoplastic disease or syndrome (6) Hereditary skin disorder (5)
Trials to join now! 24 Not yet recruiting 3 Not yet finished but already full! 11 Completed 6
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