Presentation
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]
Gastrointestinal
- 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]
Skin
- 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]
Treatment
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]
Prognosis
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]
Etiology
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]
Epidemiology
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]
Prevention
In addition, in some cases, treatment with anticonvulsant drugs may help prevent, reduce, or control seizures. [rarediseases.org]