Cardiofaciocutaneous syndrome
Overview
Cardiofaciocutaneous Syndrome: A rare genetic disorder characterized by short stature, congenital heart defects skin anomalies and frontal bossing.
Symptoms
The list of signs and symptoms mentioned in various sources for Cardiofaciocutaneous Syndrome includes the 35 symptoms listed below: * Mental retardation * Reduced muscle tone * Nystagmus * Strabismus * Brain anomalies * Hydrocephalus * Cortical atrophy * Hypoplasia of frontal lobes * Brain stem atrophy * Postnatal growth deficiency * Large head * Large prominent forehead * Bitemporal narrowing * Shallow orbital ridges * Down-slanting palpebral fissures * Wide-set eyes * Drooping eyelids * Protruding eyeballs * Short nose * Upturned nose * Prominent philtrum * Posteriorly rotated ears * Heart abnormalities * Atrial septal defects * Pulmonic stenosis * Sparse hair * Curly hair * Slow-growing hair * Missing eyebrows * Missing eyelashes * Skin abnormalities * Atopic dermatitis * Hyperkeratosis-like skin lesions * Ichthyosis-like lesions * Language dysfunction
Prevention
Cardiac. Certain congenital heart defects (notably valve dysplasias) require antibiotic prophylaxis for subacute bacterial endocarditis (SBE). Anesthesia. Individuals with CFC syndrome may have an unrecognized hypertrophic cardiomyopathy or a predisposition to cardiac rhythm disturbances.
Diagnosis
These home medical tests may be relevant to Cardiofaciocutaneous Syndrome: * High Blood Pressure: Home Testing * Home Blood Pressure Tests * Home Blood Pressure Monitors * Home Heart Tests * Heart Health: Home Testing: * Heart Rate Monitors * Irregular Heartbeat Detection * Heart Electrocardiogram (ECG) * Home Cholesterol Tests
Treatment
CFC syndrome affects many organ systems and, therefore, the vast majority of individuals require a multidisciplinary team of healthcare providers. Cardiovascular management is dictated by the abnormality, with treatment similar to that in the general population: structural defects are managed surgically as needed; hypertrophic cardiomyopathy is followed by serial echocardiograms, and cardiac arrhythmias are medically managed in an aggressive manner. Severe feeding issues during the first years of life require management by a pediatric gastroenterologist. Many children with CFC syndrome require nasogastric or gastrostomy tube feeding because of failure to thrive. Increasing caloric intake may be of benefit. Children with severe gastroesophageal reflux may require a Nissen fundoplication. Constipation affects the majority of individuals; increased fiber in the diet, under the direction of a pediatrician, may be beneficial. Seizures are treated as in the general population. Some individuals are growth hormone deficient and may benefit from management by an endocrinologist. Hypertrophic cardiomyopathy is considered by some to be a contraindication to growth hormone therapy. Ocular abnormalities such as myopia or hyperopia are corrected with lenses as in the general population. Musculoskeletal abnormalities, such as scoliosis or pectus deformity, are managed as in the general population. Xerosis and pruritis may be relieved by increasing the ambient humidity or using hydrating lotions. Signs and symptoms of skin infection, especially in the presence of lymphedema, warrant thorough and immediate evaluation by a physician for the consideration of antibiotic treatment. Recurrent otitis media may require placement of PE tubes. Enrollment in early-intervention therapies to promote motor and intellectual development (e.g., occupational therapy, physical therapy, or speech therapy) is recommended.