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- W2318276780 abstract "The cardiofaciocutaneous (CFC) syndrome (OMIM 115150) is a multiple congenital anomalies/mental retardation (MCA/MR) syndrome characterized by psychomotor delay, muscular hypotonia, feeding problems, short stature, relative macrocephaly, typical face, ectodermal abnormalities consisting typically of sparse and curly hair, absent eyebrows and ulerythema ophryogenes, congenital heart defects, mainly pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. All known bona fide cases are sporadic, possibly due to new autosomal dominant mutations of an as yet unknown gene(s). Differential diagnosis is usually made with Noonan and Costello syndromes. The frequency of the condition is unknown. Its management is symptomatic, including special education, occupational and speech therapy, appropriate care of the skin. Feeding problems may require tube feeding or even gastrostomy. Heart defects may require surgical correction." @default.
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- W2318276780 date "2004-01-01" @default.
- W2318276780 modified "2023-09-30" @default.
- W2318276780 title "The cardiofaciocutaneous (CFC) syndrome" @default.
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