Heart Congenital heart defects are present in over 75% of patients, with the most common heart defects being pulmonic stenosis and atrial or ventricular septal defects. [rarediseases.org]

Surgical recommendations to be assisted by gastroenterologist. • If feeding difficulties are present, then refer for feeding therapy evaluation. [ncbi.nlm.nih.gov]

• Weakness

  Peripheral Muscle Weakness in RASopathies: Handgrip Strength in Costello, Cardio-facio-cutaneous, Noonan and Neurofibromatosis Type 1 Syndromes. Muscle and Nerve. 2012;46(3):394-9. Tidyman WE, HS Lee, KA Rauen. [rarediseases.org]

  Infants with cardiofaciocutaneous syndrome typically have weak muscle tone (hypotonia), feeding difficulties, and a failure to grow and gain weight at the normal rate (failure to thrive). [medlineplus.gov]

  Peripheral muscle weakness in RASopathies. Muscle Nerve. 2012;46(3):394–399 [PubMed] [Google Scholar] 67. Tidyman WE, Lee HS, Rauen KA. [ncbi.nlm.nih.gov]

• Malnutrition

  Most children have malnutrition secondary to avoidance of eating. Fatty liver and anal stenosis (tightening of the anal sphincter) have also been reported. [rarediseases.org]

  Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study. Am J Med Genet A. 2005;137(A):1–8 [PubMed] [Google Scholar] 45. Aizaki K, Sugai K, Saito Y, et al.. [ncbi.nlm.nih.gov]

• Developmental Disabilities

  Using individualized schedules as a component of positive behavioral support for students with developmental disabilities. J Posit Behav Interv. 2002;4:73–79 [Google Scholar] 56. Herman TE, McAlister WH. [ncbi.nlm.nih.gov]

• Failure to Thrive

  Signs & Symptoms Most individuals are initially referred because of feeding difficulties (poor suck) and failure to thrive. Later, cognitive developmental delay and other clinical manifestations may be observed. [rarediseases.org]

  Infants with cardiofaciocutaneous syndrome typically have weak muscle tone (hypotonia), feeding difficulties, and a failure to grow and gain weight at the normal rate (failure to thrive). [medlineplus.gov]

  In addition, inadequate nutrition, due to the high prevalence of feeding problems in CFC, might contribute to failure to thrive, poor growth, and possibly IGF-1 deficiency. [ncbi.nlm.nih.gov]

• Vomiting

  Feeding/gastrointestinal Severe feeding problems manifest as gastroesophageal reflux (GER), aspiration, vomiting, and affected individuals will avoid eating (avoidance of eating can lead to growth delays). [rarediseases.org]

• Muscle Weakness

  Peripheral Muscle Weakness in RASopathies: Handgrip Strength in Costello, Cardio-facio-cutaneous, Noonan and Neurofibromatosis Type 1 Syndromes. Muscle and Nerve. 2012;46(3):394-9. Tidyman WE, HS Lee, KA Rauen. [rarediseases.org]

  Peripheral muscle weakness in RASopathies. Muscle Nerve. 2012;46(3):394–399 [PubMed] [Google Scholar] 67. Tidyman WE, Lee HS, Rauen KA. [ncbi.nlm.nih.gov]

• Visual Impairment

  Ophthalmology At risk for ptosis, amblyopia, refractive errors, strabismus, cataracts, optic nerve hypoplasia, optic atrophy, cortical visual impairment, delayed visual maturation, and abnormal depth perception. [ncbi.nlm.nih.gov]

• Sparse Eyebrows

  They also have absent or sparse eyebrows and eyelashes. In some children, the nails are dystrophic, with broad flat nails, and/or fast growing. Skin involvement ranges from dry skin to the skin disease known as hyperkeratosis. [rarediseases.org]

  Facial features less coarse, lower incidence of severe feeding problems, fewer cutaneous features such as follicular hyperkeratosis, sparse eyebrows, ulerythema ophryogenes, and less incidence of marked cognitive delay. [ncbi.nlm.nih.gov]

• Eczema

  NS with loose anagen hair Triangular facies, hypertelorism, high forehead, sparse thin hair, short stature, eczema, dry skin, and macrocephaly. [ncbi.nlm.nih.gov]

• Sparse to No Eyebrows

  Facial features less coarse, lower incidence of severe feeding problems, fewer cutaneous features such as follicular hyperkeratosis, sparse eyebrows, ulerythema ophryogenes, and less incidence of marked cognitive delay. [ncbi.nlm.nih.gov]

• Peripheral Neuropathy

  • If peripheral neuropathy suspected, consult with neurologist for nerve conduction velocities and electromyogram. [ncbi.nlm.nih.gov]

• Cognitive Developmental Delay

  Later, cognitive developmental delay and other clinical manifestations may be observed. [rarediseases.org]

Standard Therapies Treatment The treatment of CFC syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Early treatment of skin infections is recommended in those with lymphedema. [ncbi.nlm.nih.gov]

The prognosis of many aspects of CFC is still unknown, and full understanding of care expectations during childhood and adulthood is yet to be established. [ncbi.nlm.nih.gov]

Regardless of phenotypic assignment, it is essential to establish the molecular etiology of all individuals with CFC to provide appropriate medical care. [ncbi.nlm.nih.gov]

Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey. Am J Med Genet A. 2012;158A(5):1083–1094 [PubMed] [Google Scholar] 3. [ncbi.nlm.nih.gov]

In addition, in some cases, treatment with anticonvulsant drugs may help prevent, reduce, or control seizures. [rarediseases.org]