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GTR Home > Conditions/Phenotypes > Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome

Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome

Synonyms
Cutaneous telangiectasia and cancer syndrome, familial
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Patients with this syndrome develop cutaneous telangiectases in infancy with patchy alopecia over areas of affected skin, thinning of the lateral eyebrows, and mild dental and nail anomalies. Affected individuals are at increased risk of developing oropharyngeal cancer, and other malignancies have been reported as well (Tanaka et al., 2012). [from OMIM]

Available tests

26 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (26 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FCTCS, FRP1, MEC1, SCKL, SCKL1, ATR
    Summary: ATR serine/threonine kinase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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