Presentation
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]
Entire Body System
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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]
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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]
Gastrointestinal
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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]
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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]
Musculoskeletal
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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]
Skin
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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]
Neurologic
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Cognitive Developmental Delay
Later, cognitive developmental delay and other clinical manifestations may be observed. [rarediseases.org]
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]
Prevention
In addition, in some cases, treatment with anticonvulsant drugs may help prevent, reduce, or control seizures. [rarediseases.org]