Clinical Guidance
Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder in which individuals may have dysmorphic craniofacial features, cardiac issues, skin and hair abnormalities, hypotonia, eye abnormalities, gastrointestinal dysfunction, seizures, and varying degrees of neurocognitive delay . While many features have been seen in association with this condition, individuals with CFC syndrome display phenotypic variability and therefore not all have every finding. Polyhydramnios is present in the vast majority of fetal cases diagnosed in utero. Maternal hyperemesis gravidarum, gestational diabetes, gestational hypertension, and preeclampsia may occur, and subjective decrease in fetal movement may be observed prenatally. Second- and third-trimester ultrasound abnormalities may include polyhydramnios, macrocephaly, macrosomia, and renal and cardiac abnormalities. Operative delivery is not uncommon. Neonatal outcomes of CFC individuals may include irregular heartbeat, intubation, need for feeding tube, edema, chylothorax, and hyperbilirubinemia, which may be confounded by the increased rate of prematurity . Table 2. Cardiofaciocutaneous Syndrome: Frequency of Select Features
Feature | Frequency | Comment |
|---|
Nearly all | Common | Less frequent |
Hypotonia motor developmental delay | Seizures | Behavioral issues |
Source: GeneReviews — "Cardiofaciocutaneous Syndrome"
