Table 6.

Recommended Surveillance for Individuals with Cardiofaciocutaneous Syndrome

System/ConcernEvaluationFrequency
Growth
  • Measurement of growth parameters, incl weight, length/height, & head circumference
  • Refer to endocrinologist at age 2-3 yrs (or earlier if there are concerns about growth) to monitor growth velocity. 1
At each visit
Feeding Eval of nutritional status & safety of oral intake
Gastrointestinal Monitor for gastrointestinal reflux, constipation, & generalized dysmotility.
Neurologic Monitor those w/seizures as clinically indicated.
Assess for new manifestations such as seizures, changes in tone, or need for brain MRI. 2At each visit, w/periodic neurologist evals as needed
Development Monitor developmental progress & educational needs.At each visit
Eyes Monitor for ocular issues (such as myopia, hyperopia, cataracts) by ophthalmologistEvery 6-12 mos as directed by ophthalmologist
Musculoskeletal Assess for scoliosis 3, 4At each visit until skeletal maturity
Hearing Hearing evalEvery 2-3 yrs, or more frequently if hearing loss has been identified
Cardiovascular 5 Blood pressure measurementAt each clinic visit
Persons up to age 20 yrsEchocardiogram every 2-3 yrs, if initial cardiac eval is normal
Persons older than age 20 yearsEchocardiogram every 3-5 yrs, if no previous heart disease found
Skin Dermatologic eval for skin issues, progression of nevi formation, & monitoring of lymphedemaAnnually or as directed by dermatologist
Endocrine Monitor for signs/symptoms of thyroid &/or growth hormone deficiency.At each visit
Monitor for signs of precocious or delayed puberty.At each visit in childhood & adolescence
DXA scanIn young adults, w/follow up as clinically indicated
Hematologic Reassess platelet count for evidence of thrombocytopeniaIn those who have evidence of easy bruising or bleeding

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

DXA = dual-energy x-ray absorptiometry

1.

Growth failure may be a sign of growth hormone deficiency or thyroid hormone deficiency.

2.

Affected individuals are at risk of developing Chari I malformation.

3.

Perform spine MRI prior to any spinal surgery to assess for Chiari malformation and/or spinal abnormalities [Pierpont et al 2014].

4.

Evaluation for bleeding issues should be done prior to any invasive or surgical procedure [Pierpont et al 2014].

5.

Periodic echocardiogram and electrocardiogram are necessary throughout life, as hypertrophic cardiomyopathy and rhythm disturbances may develop later in life.

From: Cardiofaciocutaneous Syndrome

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