Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with Cardiofaciocutaneous (CFC) Syndrome

Constitutional Complete physical exam incl measurement of growth parametersTo assess for poor growth
Neurologic Neurologic eval 1
  • To incl brain MRI in persons w/rapid ↑ in head growth, regression of developmental skills, seizures, changes in neurologic findings, or concerns about optic nerve hypoplasia on ophthalmologic eval
  • Consider EEG if seizures are a concern.
  • Consider nerve conduction velocities & electromyogram in those w/suspected peripheral neuropathy.
  • Education about ↑ risk for development of infantile spasms, seizures, hydrocephalus, & Type 1 Chiari malformation
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Neuropsychiatric evalFor persons age >12 mos: screening for behavior concerns incl sleep disturbances, ADHD, anxiety, &/or findings suggestive of ASD
Gastroenterology / nutrition / feeding team eval
  • To incl eval of aspiration risk & nutritional status
  • Consider swallowing study &/or studies for GERD.
  • Consider eval for gastrostomy tube placement in persons w/dysphagia &/or aspiration risk.
  • Be mindful of possible malrotation.
  • Assessment for signs/symptoms of constipation
Eyes Ophthalmologic evalTo assess for ptosis, amblyopia, refractive error, strabismus, optic nerve abnormalities, cataracts, delayed visual maturation, cortical visual impairment, or more complex findings that may require subspecialty referral
Musculoskeletal Orthopedics / physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Contractures, hip dysplasia, & kyphoscoliosis
  • Mobility, ADL, & need for adaptive devices
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Hearing Audiologic evalAssess for hearing loss.
Cardiovascular Cardiac eval incl measurement of blood pressure, echocardiogram, & electrocardiogram
  • With special assessment for pulmonary stenosis, hypertrophic cardiomyopathy, &/or septal defects
  • If there are concerns about arrhythmia, then consider 24-hour Holter eval.
Genitourinary Abdominal ultrasoundTo evaluate for renal & (rarely) splenic anomalies
Consider pelvic ultrasound.For uterine anomalies in pubertal/postpubertal females, as clinically indicated
Skin Dermatologic eval 2
  • Skin issues typically evolve over time.
  • If there is significant lymphedema or large hemangiomas, consider referral to vascular anomalies specialist or clinic.
Endocrine Consider obtaining TSH, free T4, IGF-1, & IGFBP-3.Consider referral to endocrinologist.
Consider celiac disease screening in those w/growth failure.
Physical exam for evidence of precocious puberty in children & for initiation & progression through puberty in adolescents
Obtain DXA scan in younger & older adultsTo assess for ↓ bone mineralization
Hematologic/Lymphatic CBC w/platelet count, platelet function studies, & von Willebrand screening
  • In persons w/history of bruising or bleeding problems, consider referral to hematologist if there are abnormalities on these screening blood tests.
  • Eval for bleeding issues should be done prior to any invasive or surgical procedure.
Respiratory/Sleep Clinical assessment for signs & symptoms of tracheomalacia in infants & young childrenLaryngotracheal abnormalities such as laryngotracheomalacia & laryngeal clefts have been reported.
Consider sleep study.Sleep issues are common & may incl poor sleeping patterns, night sweating, sleep apnea, &/or night terrors.
Genetic counseling By genetics professionals 3To inform affected persons & their families re nature, MOI, & implications of CFC syndrome to facilitate medical & personal decision making
Family support
& resources
Assess need for:

Adapted in part from Pierpont et al [2014], Table 1

ADHD = attention-deficit/hyperactivity disorder; ADL = activities of daily living; ASD = autism spectrum disorder; CBC = complete blood count; DXA = dual-energy x-ray absorptiometry; GERD = gastroesophageal reflux disease; IGF-1 = insulin-like growth factor 1; IGFBP-3 = insulin-like growth factor binding protein 3; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy; T4 = thyroxine; TSH = thyroid-stimulating hormone


Affected individuals are also at risk for the development of neuropathy and complaints of pain.


Skin issues may include keratosis pilaris, ulerythema ophryogenes, eczema, progressive multiple pigmented nevi, dystrophic nails, lymphedema, hemangiomas, hyperkeratosis, and generalized hyperpigmentation.


Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Cardiofaciocutaneous Syndrome

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