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

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]

Ulnar deviation of fingers, elbow contractures and cubitus valgus were also present, but they were less prevalent than in CS. Hip and knees contractures and feet anomalies (mostly characterized by pes valgus and planus) were also present. [ojrd.biomedcentral.com]

CFC is a phenotypically variable disorder; not all affected individuals will present with every finding. Further, some findings may be evident at birth while others may present later. [invitae.com]

Genetic and phenotypic similarities to Noonan syndrome (NS) are present, and as in NS, extensive genetic heterogeneity is demonstrated, and a proportion of patients remain without a molecular diagnosis. [rasopathiesnet.org]

• 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]

  Failure to thrive during infancy is typical, as are gastrointestinal complications such as reflux, vomiting, oral aversion, and constipation. [invitae.com]

• Cardiomegaly

  X-ray studies may reveal abnormal enlargement of the heart (cardiomegaly) or malformation of certain heart structures. An EKG, which records the electrical activities of the heart muscle, may reveal abnormal electrical patterns. [rarediseases.org]

• 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]

• Facial Skin Lesion

  Other typical skin manifestations include small hard bumps (keratosis pilaris), facial skin lesions around the eyebrows (ulerythema ophryogenes), and benign vascular tumors (infantile hemangiomas). [rarediseases.org]

• Impulsivity

  In addition, electroencephalography (EEG), which records the brain’s electrical impulses, may reveal brain wave patterns that are characteristic of certain types of seizure activity. [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]

When necessary, surgical treatment should be performed as early as possible to allow minimally invasive or low impact surgical techniques. [ojrd.biomedcentral.com]

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]