Cardiofaciocutaneous Syndrome 2 (CFC2)

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OMIM 57 615278 MedGen 42 C3809005 CN176912 MeSH 44 D004476 D006330

SNOMED-CT via HPO 69 263681008 27272007 253251006 95515009 708670007 11934000 57190000 224958001 409712001 8074002 225570000 247546006 253208007 422441003 128208007 60703000 more UMLS 73 C3809005

UniProtKB/Swiss-Prot : ⁷⁵ Cardiofaciocutaneous syndrome 2: A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and mental retardation. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. CFC2 patients often do not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma observed in CFC1.

MalaCards based summary : Cardiofaciocutaneous Syndrome 2, is also known as cfc2. An important gene associated with Cardiofaciocutaneous Syndrome 2 is KRAS (KRAS Proto-Oncogene, GTPase). Affiliated tissues include skin and heart, and related phenotypes are low-set ears and high palate

OMIM : ⁵⁷ Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (164757)-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation. (615278)

Clinical features from OMIM:

615278

Search Clinical Trials , NIH Clinical Center for Cardiofaciocutaneous Syndrome 2

Search GEO for disease gene expression data for Cardiofaciocutaneous Syndrome 2.