Cardio facial cutaneous

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In addition, in some cases, treatment with anticonvulsant drugs may help prevent, reduce, or control seizures. Methods that may be used can include: If anomalies are identified in any organ system, lifelong periodic follow up is warranted. CC HPO: Overall prevalence is not known; prevalence in Japan is estimated at one in[ Abe et al ]. Note on variant classification: He reported a 4-year-old girl with features sufficient to meet the criteria for CFC, including developmental delay, hypotrichosis, eczematic eruption, and characteristic facial and cardiac anomalies, whose mother demonstrated typical manifestations of Noonan syndrome.

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Because it is likely that testing methodology and our understanding of genes, allelic variants, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals.

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Neuro-cardio-facial-cutaneous syndromes

Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: American Journal of Medical Genetics. Multigene panels may include testing for a number of the genes associated with disorders discussed in this section. Craniofacial findings in CFC syndrome are reminiscent of those described in Noonan syndrome macrocephaly, broad forehead, bitemporal narrowing, hypoplasia of the supraorbital ridges, downslanting palpebral fissures with ptosis, short nose with depressed nasal bridge and anteverted nares, low-set ears with prominent helices which may be posteriorly rotated, and high-arched palateunderscoring the importance of molecular testing to establish the correct diagnosis. X-ray studies may reveal abnormal enlargement of the heart cardiomegaly or malformation of certain heart structures.

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