Coronary facial cutaneous syndrome

About patients have been reported worldwide but the real incidence of LS has not been assessed. Facial dysmorphism includes ocular hypertelorism, palpebral ptosis and low-set ears. Stature is usually below the 25 th centile. Cardiac defects, in particular hypertrophic cardiomyopathy mostly involving the left ventricle, and ECG anomalies are common.
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Leopard syndrome

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Cardiofaciocutaneous Syndrome - NORD (National Organization for Rare Disorders)

Cardio-facio-cutaneous syndrome CFC is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most notably Noonan syndrome and Costello syndrome. The major features of CFC include characteristic craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and intellectual disability. It is essential that this condition be differentiated from other RASopathies, as a correct diagnosis is important for appropriate medical management and determining recurrence risk. Children and adults with CFC require multidisciplinary care from specialists, and the need for comprehensive management has been apparent to families and health care professionals caring for affected individuals.
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Rare Disease Database

The cardiofaciocutaneous CFC syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. The cutaneous involvement consists of dry, hyperkeratotic, scaly skin, sparse and curly hair, and cavernous haemangiomata. Most patients have a congenital heart defect, most commonly pulmonic stenosis and hypertrophic cardiomyopathy. The developmental delay usually is moderate to severe. The CFC syndrome is a member of a family of syndromes that includes the Noonan and Costello syndromes, presenting with phenotypic similarities.
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Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart cardio- , facial features facio- , and the skin and hair cutaneous. People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe. Heart defects occur in most people with cardiofaciocutaneous syndrome. The heart problems most commonly associated with this condition include malformations of one of the heart valves that impairs blood flow from the heart to the lungs pulmonic stenosis , a hole between the two upper chambers of the heart atrial septal defect , and a form of heart disease that enlarges and weakens the heart muscle hypertrophic cardiomyopathy.
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