• Thumbnail for Cardiofaciocutaneous syndrome
    Cardiofaciocutaneous (CFC) syndrome is an extremely rare genetic disorder, and is one of the RASopathies. It was first described in 1986. It is characterized...
    6 KB (525 words) - 04:19, 19 March 2024
  • Thumbnail for Costello syndrome
    HRAS cause Costello syndrome was first reported in 2005. These mutations, along with mutations that cause cardiofaciocutaneous syndrome, found soon after...
    12 KB (1,406 words) - 23:36, 23 April 2023
  • Thumbnail for Macrocephaly
    syndrome, (also known as basal cell nevus syndrome) and cardiofaciocutaneous syndrome; Fragile X syndrome; leukodystrophies (brain white matter degeneration)...
    18 KB (1,723 words) - 11:31, 16 September 2024
  • Thumbnail for Noonan syndrome
    development, and skin pigment changes. Cardiofaciocutaneous (CFC) syndrome - CFC syndrome is very similar to Noonan's Syndrome due to similar cardiac and lymphatic...
    41 KB (4,206 words) - 02:06, 14 September 2024
  • leak syndrome Caplan's syndrome Carcinoid syndrome Cardiac syndrome X Cardiofaciocutaneous syndrome Cardiorenal syndrome Cardiovascular syndrome Carney...
    42 KB (4,068 words) - 16:56, 1 November 2024
  • Thumbnail for Keratoderma
    syndrome Corneodermatosseous syndrome Huriez syndrome Oculocutaneous tyrosinemia Cardiofaciocutaneous syndrome Schöpf–Schulz–Passarge syndrome Acquired...
    4 KB (241 words) - 21:28, 6 June 2024
  • Thumbnail for Dysmelia
    syndrome) Campomelic dysplasia Cardiofaciocutaneous syndrome Catel–Manzke syndrome Cenani–Lenz syndrome Corneodermatoosseous syndrome Diploid triploid mosaic...
    5 KB (369 words) - 11:59, 13 July 2024
  • Cardioauditory syndrome Cardioauditory syndrome of Sanchez-Cascos Cardiofacial syndrome short limbs Cardiofaciocutaneous syndrome Cardiogenital syndrome Cardiomelic...
    40 KB (3,657 words) - 03:02, 17 August 2024
  • Thumbnail for Narrow face
    conditions and syndromes: 5p partial monosomy syndrome Bloom syndrome Branchiootorenal syndrome 1 Cardiofaciocutaneous syndrome 4 Christianson syndrome Congenital...
    4 KB (224 words) - 07:14, 15 April 2024
  • features dealing with his son Walker's rare genetic disorder, Cardiofaciocutaneous Syndrome (CFC), was published in the fall of 2009. Ian Brown's newest...
    5 KB (516 words) - 15:26, 16 July 2024
  • stand for: Chlorofluorocarbon, a class of chemical compounds Cardiofaciocutaneous Syndrome, a rare and serious genetic disorder Subpolar oceanic climate...
    5 KB (633 words) - 07:24, 2 November 2023
  • Thumbnail for BRAF (gene)
    cancer, as an oncogene. Inherited mutations in this gene cause cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental retardation...
    48 KB (5,285 words) - 16:26, 21 August 2024
  • malformation syndrome (CV-AVM) Cardiofaciocutaneous syndrome (CFC) Neurofibromatosis type I (NF1) Noonan syndrome (NS) Costello syndrome (CS) Legius syndrome, also...
    5 KB (470 words) - 11:25, 24 August 2024
  • Thumbnail for Congenital heart defect
    responsible for a variety of syndromes, including Noonan syndrome, LEOPARD syndrome, Costello syndrome and cardiofaciocutaneous syndrome in which there is cardiac...
    49 KB (4,961 words) - 08:51, 15 November 2024
  • Thumbnail for Woolly hair
    typically seen in Naxos–Carvajal syndrome (with heart involvement), Noonan syndrome, and cardiofaciocutaneous syndrome. Diagnosis is suspected by its general...
    11 KB (1,008 words) - 23:55, 1 October 2024
  • Thumbnail for Macroglossia
    citation needed] alpha-mannosidosis, Klippel–Trénaunay syndrome, cardiofaciocutaneous syndrome, Ras pathway disorders, transient neonatal diabetes, and...
    12 KB (1,050 words) - 18:56, 3 September 2024
  • Thumbnail for List of skin conditions
    impairment–decreased fertility–short stature syndrome Cantú syndrome Cardio-facio-cutaneous syndrome (cardiofaciocutaneous syndrome) Cartilage–hair hypoplasia (McKusick...
    198 KB (17,956 words) - 10:27, 2 November 2024
  • Thumbnail for Neurofibromatosis type I
    RASopathy family of diseases, which include Costello Syndrome, Noonan Syndrome, and Cardiofaciocutaneous syndrome. The RASopathies also present with skeletal muscle...
    58 KB (6,749 words) - 13:25, 1 November 2024
  • Thumbnail for KRAS
    Controls GeneReviews/NCBI/NIH/UW entry on Cardiofaciocutaneous Syndrome GeneReviews/NCBI/NIH/UW entry on Noonan syndrome KRAS2+protein,+human at the U.S. National...
    45 KB (5,079 words) - 12:00, 23 October 2024
  • Thumbnail for MAP2K1
    2981. PMID 16861903. GeneReviews/NCBI/NIH/UW entry on Noonan syndrome GeneReviews/NCBI/NIH/UW entry on Cardiofaciocutaneous Syndrome Portal: Biology...
    13 KB (1,478 words) - 04:12, 19 August 2024
  • deficiency; 604377; SCO2 Cardiofaciocutaneous syndrome; 115150; BRAF Cardiofaciocutaneous syndrome; 115150; KRAS Cardiofaciocutaneous syndrome; 115150; MAP2K1...
    234 KB (18,877 words) - 06:16, 6 November 2024
  • Thumbnail for MAP2K2
    PMID 9671314. S2CID 7117056. GeneReviews/NCBI/NIH/UW entry on Cardiofaciocutaneous Syndrome Overview of all the structural information available in the...
    10 KB (1,231 words) - 03:11, 5 April 2024
  • Thumbnail for Woolly hair autosomal recessive
    trichorrhexis nodosa and tapered ends. Cardiofaciocutaneous syndrome Naxos disease Palmoplantar keratoderma and cardiomyopathy syndrome There is no treatment for this...
    2 KB (205 words) - 03:39, 23 March 2022
  • Thumbnail for PTPN11
    Jeffery S (2002). "Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome". Hum. Genet. 111 (4–5): 421–7. doi:10.1007/s00439-002-0803-6...
    37 KB (4,304 words) - 05:41, 17 June 2024