cardiofaciocutaneous syndrome
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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0019287
ectodermal dysplasia syndrome
is_a
MONDO:0020297
Noonan syndrome and Noonan-related syndrome
is_a
CFC
exact
CFC syndrome
exact
cardio-facio-cutaneous syndrome
related
cardiofaciocutaneous (CFC) syndrome
exact
cardiofaciocutaneous syndrome
exact
congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure
related
SPAC17H9.09c SPAC1D4.13 SPBC543.07 SPBC409.07c