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Cardiofaciocutaneous syndrome

Orpha number ORPHA1340
Synonym(s) CFC syndrome
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Infancy
Neonatal
ICD-10
  • Q87.8
ICD-O -
OMIM
UMLS
  • C1275081
MeSH
  • C535579
MedDRA -
SNOMED CT
  • 403770008

Summary

Cardiofaciocutaneous (CFC) syndrome 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, ulerythema ophryogenes and congenital heart defects (mainly pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy). The prevalence of the condition is unknown. All known bona fide cases are sporadic, possibly due to new autosomal dominant mutations in as yet unidentified genes. Differential diagnosis usually involves Noonan and Costello syndromes. Management is symptomatic, including special education, occupational and speech therapy and appropriate skin care. Feeding problems may require tube feeding or even gastrostomy. Heart defects may require surgical correction.

Expert reviewer(s)

  • Dr Maria Ines KAVAMURA
  • Pr Giovanni NERI

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Detailed information

Clinical genetics review
  • EN (2012)
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