Create issue ticket

301 Possible Causes for Mutation in the FGFR2 Gene, Overfolded Superior Helix

  • FGFR2-Related Bent Bone Dysplasia

    This condition is associated with mutations in the FGFR2 gene. [2] Last updated: 6/26/2014[rarediseases.info.nih.gov] This condition is associated with mutations in the FGFR2 gene.[malacards.org] Bent bone dysplasia syndrome Bent bone dysplasia syndrome ( BBDS ; MIM 614592) is an autosomal dominant perinatal lethal skeletal dysplasia caused by mutations in the FGFR2[ctgt.net]

  • Crouzon Syndrome

    Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been identified in Crouzon syndrome, an autosomal dominant condition causing premature fusion of the[ncbi.nlm.nih.gov] We considered the p.C278F mutation in the FGFR2 gene as the causative mutation for the CS.[ncbi.nlm.nih.gov] Here, we report on a child with a clinically diagnosed Crouzon syndrome that shows the missense point mutation S267P in FGFR2 gene.[ncbi.nlm.nih.gov]

    Missing: Overfolded Superior Helix
  • Apert Syndrome

    Two mutations in the FGFR2 gene (Ser252Trp and Pro253Arg) account for most of the cases. We report a patient with a rare form of Apert syndrome with polydactyly.[ncbi.nlm.nih.gov] Two missense mutations of the gene encoding the fibroblast growth factor receptor 2 (FGFR2) have been implicated in most cases.[ncbi.nlm.nih.gov] Etiology A mutation in the FGFR2 gene (10q25.3-10q26) involved in cell signaling during embryonic development is causative in Apert syndrome.[orpha.net]

    Missing: Overfolded Superior Helix
  • Crouzon Syndrome-Acanthosis Nigricans Syndrome

    […] in the FGFR2 gene (176943).[malacards.org] Definition Classic Crouzon disease which is caused by mutations in the FGFR2 gene is characterized by craniosynostosis (premature fusion of the skull sutures), and facial[uniprot.org] UniProtKB/Swiss-Prot : 75 Crouzon syndrome with acanthosis nigricans: Classic Crouzon disease which is caused by mutations in the FGFR2 gene is characterized by craniosynostosis[malacards.org]

    Missing: Overfolded Superior Helix
  • Baller-Gerold Syndrome

    superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[jmg.bmj.com] This syndrome results from mutations in the FGFR2 gene (Przylepa et al. 1996).[rrnursingschool.biz] J Korean Med Sci 2007;22:352-356 Krepelová A, Baxová A, Calda P, Plavka R, Kapras J: FGFR2 gene mutation (Tyr-375Cys) in a new case of Beare-Stevenson syndrome.[karger.com]

  • Cloverleaf Skull

    Mutations of the FGFR1 gene or FGFR2 gene can cause Pfeiffer syndrome.[genome.jp] Abstract Mutations in the fibroblast growth factor receptor 2 ( FGFR2 ) gene have been identified in Crouzon syndrome, an autosomal dominant condition causing premature fusion[nature.com] […] to mutation of the FGFR2 gene.[em-consulte.com]

    Missing: Overfolded Superior Helix
  • Kaufman Oculocerebrofacial Syndrome

    Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[findzebra.com] […] two gene, FGFR2.The orbits are shallow with ensuing exorbitism, that is because of the anterior positioning of the larger wing of the sphenoid bone.[omicsonline.org] […] heterozygosity for the same de novo missense mutation in the FGFR2 gene in 3 of them (M391R; 176943.0043), with a different heterozygous FGFR2 mutation detected in the remaining[findzebra.com]

  • Familial Scaphocephaly Syndrome

    This syndrome results from mutations in the FGFR2 gene (Przylepa et al. 1996).[rrnursingschool.biz] Mutations in the FGFR2 gene cause several syndromes that result in craniosynostosis (Crouzon, Pfeiffer, Apert, Jackson-Weiss, Beare-Stevenson Cutis Gyrata) and familial scaphocephaly[bmcproc.biomedcentral.com] Crouzon Syndrome is caused by mutations on the FGFR2 and FGFR3 genes.[craniokids.co.za]

    Missing: Overfolded Superior Helix
  • Saethre-Chotzen Syndrome

    OBJECTIVE: To describe the first report on a three-generation family presenting typical features of Saethre-Chotzen syndrome, in which the Q289P mutation in the FGFR2 gene[ncbi.nlm.nih.gov] The majority of individuals with an identified mutation have a fault in the TWIST gene, however at least one individual has been identified with a mutation in the FGFR2 gene[rarediseases.org] This syndrome results from mutations in the FGFR2 gene (Przylepa et al. 1996).[rrnursingschool.biz]

    Missing: Overfolded Superior Helix
  • Craniosynostosis

    Although FGFR2 gene mutations and polymorphisms have been studied in various ethnic groups, we report a mutation of FGFR2 in two different Chinese patients with two different[ncbi.nlm.nih.gov] Heterozygous mutations in the human FGFR2 gene cause various craniosynostosis syndromes including Crouzon and Pfeiffer, but testicular defects were not reported.[ncbi.nlm.nih.gov] Mutations in 7 genes are unequivocally associated with mendelian forms of syndromic craniosynostosis: FGFR1, FGFR2, FGFR3, TWIST1, EFNB1, MSX2 and RAB23.[ncbi.nlm.nih.gov]

    Missing: Overfolded Superior Helix

Further symptoms