Orphanet: Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome

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Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome

Disease definition

A rare, inherited cancer-predisposing syndrome characterized by an early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported.

ORPHA:313846

Classification level: Disorder

Synonym(s): -
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: Infancy, Neonatal
ICD-10: C10.9
OMIM: 614564
UMLS: C5190630
MeSH: -
GARD: -
MedDRA: -

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Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome

ORPHA:313846

A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018)

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