Open AccessCardiofaciocutaneous Syndrome: Case Report of a Rare Disorder
Author(s) -
Soutrik Seth,
Tanmoy Biswas,
Biswajit Biswas,
Ajitesh Roy,
Anuja Datta
Publication year - 2016
Publication title -
journal of clinical and diagnostic research
Language(s) - English
Resource type - Journals
eISSN - 2249-782X
pISSN - 0973-709X
DOI - 10.7860/jcdr/2016/21586.8811
Subject(s) - costello syndrome , noonan syndrome , craniofacial , genetic disorder , medicine , pediatrics , population , psychiatry , colorectal cancer , disease , environmental health , cancer , kras
Cardiofaciocutaneous syndrome or CFC syndrome is a rare genetic disorder first described in 1986. It is one of the RASopathies involving multiple organs particularly the heart, skin and face affecting males and females equally. The phenotypic features overlap with 2 other conditions, the Noonan and Costello syndrome. We report on a 22-month-old boy with CFC syndrome presenting with typical craniofacial appearance, heart defects, ectodermal abnormalities, growth failure and developmental delay. Estimated population of affected individuals worldwide is a few hundreds.