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
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
Macrocephaly (redirect from Learman syndrome)
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
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
Keratoderma (redirect from Syndromic keratoderma)
syndrome Corneodermatosseous syndrome Huriez syndrome Oculocutaneous tyrosinemia Cardiofaciocutaneous syndrome Schöpf–Schulz–Passarge syndrome Acquired...
4 KB (241 words) - 21:28, 6 June 2024
Dysmelia (section Syndromes with 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
Narrow face (section Syndromes (conditions))
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
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
RASopathy (redirect from Neuro-cardio-facial-cutaneous syndromes)
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
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
Woolly hair (redirect from Wooly hair syndrome)
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
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
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
Neurofibromatosis type I (redirect from Von Recklinghausen syndrome)
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
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
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
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
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
PTPN11 (section Noonan syndrome)
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