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Cardiofaciocutaneous syndrome

rare

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

Identifiers
MONDO:0015280 Orphanet:1340
Part of
Noonan syndrome and Noonan-related syndromeEctodermal dysplasia syndromeMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
Also known as
cardio-facio-cutaneous syndrome · cardiofaciocutaneous (CFC) syndrome · CFC · CFC syndrome · congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure

Subtypes

All diseases Rare only
Disease Subtypes
Cardiofaciocutaneous syndrome 1
Cardiofaciocutaneous syndrome 2
Cardiofaciocutaneous syndrome 3
Cardiofaciocutaneous syndrome 4

Rare disease

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