Familial cutaneous telangiectasia and…

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Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome

ORPHA:313846Disease

What it is

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.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Infancy, Neonatal
Inheritance
Autosomal dominant
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Gene

ATRDisease-causing germline mutation(s)

ICD-10 codes

C10.9filed under a broader ICD-10 category

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MONDO 0013806OMIM 614564UMLS C5190630

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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