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MeSH Review


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Disease relevance of Syndactyly


Psychiatry related information on Syndactyly


High impact information on Syndactyly

  • Fraser syndrome is a recessive, multisystem disorder presenting with cryptophthalmos, syndactyly and renal defects and associated with loss-of-function mutations of the extracellular matrix protein FRAS1 [8].
  • Here we describe how the loss of a cytoplasmic multi-PDZ scaffolding protein, glutamate receptor interacting protein 1 (GRIP1), leads to the formation of subepidermal hemorrhagic blisters, renal agenesis, syndactyly or polydactyly and permanent fusion of eyelids (cryptophthalmos) [9].
  • Both PHS and GCPS have polysyndactyly, abnormal craniofacial features and are inherited in an autosomal dominant pattern, but they are clinically distinct [10].
  • To elucidate the contribution of the extracellular microfibril-elastic fiber network to vertebrate organogenesis, we generated fibrillin 2 (Fbn2)-null mice by gene targeting and identified a limb-patterning defect in the form of bilateral syndactyly [11].
  • They exhibit multiple developmental defects, including failure of anterior neural tube closure (exencephaly), failure of digit septation (syndactyly), and dysmorphogenesis of the placental labyrinth [12].

Chemical compound and disease context of Syndactyly

  • In the course of performing an N-ethyl-N-nitrosourea mutagenesis screen, we identified a dominant mouse mutation that exhibits many classic symptoms of ODDD, including syndactyly, enamel hypoplasia, craniofacial anomalies and cardiac dysfunction [13].
  • Together with the absence of anomalies of cholesterol metabolism, a combination of oral frenula, laryngeal malformations, digestive abnormalities, intercalary polysyndactyly, generalised brachytelephalangism, and nail hypoplasia should allow the delineation of Pallister-Hall syndrome, even when a CNS tumour is absent [14].
  • We report on a male infant with an unusual type of acrocephalosyndactyly presenting with unilateral coronal craniosynostosis, cutaneous syndactyly of toes 2 and 3, loss of distal triradii, and transverse alignment of dermal ridges of the palm suggesting syndactyly, atresia of the proximal jejunum, and anal stenosis [15].
  • Diphenylhydantoin produced a low incidence of syndactyly and oligodactyly [16].
  • Polydactyly and polysyndactyly induced by prenatal exposure to ethanol [17].

Biological context of Syndactyly


Anatomical context of Syndactyly


Gene context of Syndactyly

  • In addition, a recently identified ligand-dependent S252L/A315S double mutation in FGFR2 was shown to cause syndactyly in the absence of craniosynostosis [27].
  • In the current investigation, we have analysed the classical mouse mutant shaker-with-syndactylism using a positional candidate approach and demonstrated that loss-of-function mutations outside the "neonatal region" of Fbn2 cause syndactyly in mice [28].
  • Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker [29].
  • Syndactyly of Ft/+ mice correlates with an imbalance in bmp4 and fgf8 expression [30].
  • Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual [31].

Analytical, diagnostic and therapeutic context of Syndactyly


  1. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Wilkie, A.O., Slaney, S.F., Oldridge, M., Poole, M.D., Ashworth, G.J., Hockley, A.D., Hayward, R.D., David, D.J., Pulleyn, L.J., Rutland, P. Nat. Genet. (1995) [Pubmed]
  2. Serrate2 is disrupted in the mouse limb-development mutant syndactylism. Sidow, A., Bulotsky, M.S., Kerrebrock, A.W., Bronson, R.T., Daly, M.J., Reeve, M.P., Hawkins, T.L., Birren, B.W., Jaenisch, R., Lander, E.S. Nature (1997) [Pubmed]
  3. De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. Oldridge, M., Zackai, E.H., McDonald-McGinn, D.M., Iseki, S., Morriss-Kay, G.M., Twigg, S.R., Johnson, D., Wall, S.A., Jiang, W., Theda, C., Jabs, E.W., Wilkie, A.O. Am. J. Hum. Genet. (1999) [Pubmed]
  4. Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome. Krebs, I., Weis, I., Hudler, M., Rommens, J.M., Roth, H., Scherer, S.W., Tsui, L.C., Füchtbauer, E.M., Grzeschik, K.H., Tsuji, K., Kunz, J. Hum. Mol. Genet. (1997) [Pubmed]
  5. Association of syndactyly, ectodermal dysplasia, and cleft lip and palate: report of two sibs from Turkey. Oğur, G., Yüksel, M. J. Med. Genet. (1988) [Pubmed]
  6. Feingold syndrome: report of a new family and review. Courtens, W., Levi, S., Verbelen, F., Verloes, A., Vamos, E. Am. J. Med. Genet. (1997) [Pubmed]
  7. Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following suspicious ultrasound findings. Ferreira, J.C., Carter, S.M., Bernstein, P.S., Jabs, E.W., Glickstein, J.S., Marion, R.W., Baergen, R.N., Gross, S.J. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. (1999) [Pubmed]
  8. Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Jadeja, S., Smyth, I., Pitera, J.E., Taylor, M.S., van Haelst, M., Bentley, E., McGregor, L., Hopkins, J., Chalepakis, G., Philip, N., Perez Aytes, A., Watt, F.M., Darling, S.M., Jackson, I., Woolf, A.S., Scambler, P.J. Nat. Genet. (2005) [Pubmed]
  9. A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1. Takamiya, K., Kostourou, V., Adams, S., Jadeja, S., Chalepakis, G., Scambler, P.J., Huganir, R.L., Adams, R.H. Nat. Genet. (2004) [Pubmed]
  10. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Kang, S., Graham, J.M., Olney, A.H., Biesecker, L.G. Nat. Genet. (1997) [Pubmed]
  11. Regulation of limb patterning by extracellular microfibrils. Arteaga-Solis, E., Gayraud, B., Lee, S.Y., Shum, L., Sakai, L., Ramirez, F. J. Cell Biol. (2001) [Pubmed]
  12. Roles for laminin in embryogenesis: exencephaly, syndactyly, and placentopathy in mice lacking the laminin alpha5 chain. Miner, J.H., Cunningham, J., Sanes, J.R. J. Cell Biol. (1998) [Pubmed]
  13. A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia. Flenniken, A.M., Osborne, L.R., Anderson, N., Ciliberti, N., Fleming, C., Gittens, J.E., Gong, X.Q., Kelsey, L.B., Lounsbury, C., Moreno, L., Nieman, B.J., Peterson, K., Qu, D., Roscoe, W., Shao, Q., Tong, D., Veitch, G.I., Voronina, I., Vukobradovic, I., Wood, G.A., Zhu, Y., Zirngibl, R.A., Aubin, J.E., Bai, D., Bruneau, B.G., Grynpas, M., Henderson, J.E., Henkelman, R.M., McKerlie, C., Sled, J.G., Stanford, W.L., Laird, D.W., Kidder, G.M., Adamson, S.L., Rossant, J. Development (2005) [Pubmed]
  14. Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands. Verloes, A., David, A., Ngô, L., Bottani, A. J. Med. Genet. (1995) [Pubmed]
  15. Asymmetrical coronal synostosis, cutaneous syndactyly of the fingers and toes, and jejunal atresia in a male infant. Pfeiffer, R.A., Rinnert, S., Popp, R., Röckelein, G. Am. J. Med. Genet. (1996) [Pubmed]
  16. Studies of the development of congenital anomalies in rats. III. Effects of inhibition of mitochondrial energy systems on embryonic development. Mackler, B., Grace, R., Tippit, D.F., Lemire, R.J., Shepard, T.H., Kelley, V.C. Teratology (1975) [Pubmed]
  17. Polydactyly and polysyndactyly induced by prenatal exposure to ethanol. West, J.R., Black, A.C., Reimann, P.C., Alkana, R.L. Teratology (1981) [Pubmed]
  18. Craniosynostosis and syndactyly: expanding the 11q-- chromosomal deletion phenotype. Lippe, B.M., Sparkes, R.S., Fass, B., Neidengard, L. J. Med. Genet. (1980) [Pubmed]
  19. Cloning of Fatso (Fto), a novel gene deleted by the Fused toes (Ft) mouse mutation. Peters, T., Ausmeier, K., Rüther, U. Mamm. Genome (1999) [Pubmed]
  20. Digital anomalies of mouse limbs induced by treatment with urethan in vitro. Yasuda, Y. Teratology (1977) [Pubmed]
  21. The FU gene and its possible protein isoforms. Østerlund, T., Everman, D.B., Betz, R.C., Mosca, M., Nöthen, M.M., Schwartz, C.E., Zaphiropoulos, P.G., Toftgård, R. BMC Genomics (2004) [Pubmed]
  22. Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome. Ibrahimi, O.A., Eliseenkova, A.V., Plotnikov, A.N., Yu, K., Ornitz, D.M., Mohammadi, M. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  23. Growth arrest specific gene 1 acts as a region-specific mediator of the Fgf10/Fgf8 regulatory loop in the limb. Liu, Y., Liu, C., Yamada, Y., Fan, C.M. Development (2002) [Pubmed]
  24. Doubleridge, a mouse mutant with defective compaction of the apical ectodermal ridge and normal dorsal-ventral patterning of the limb. Adamska, M., MacDonald, B.T., Meisler, M.H. Dev. Biol. (2003) [Pubmed]
  25. Mutations of the mouse Twist and sy (fibrillin 2) genes induced by chemical mutagenesis of ES cells. Browning, V.L., Chaudhry, S.S., Planchart, A., Dixon, M.J., Schimenti, J.C. Genomics (2001) [Pubmed]
  26. Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: a new autosomal dominant disorder. Martínez-Frías, M.L., Martín, M., Pardo, M., Fernandez de las Heras, F., Frías, J.L. Am. J. Med. Genet. (1995) [Pubmed]
  27. Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities. Ibrahimi, O.A., Zhang, F., Eliseenkova, A.V., Itoh, N., Linhardt, R.J., Mohammadi, M. Hum. Mol. Genet. (2004) [Pubmed]
  28. Mutation of the gene encoding fibrillin-2 results in syndactyly in mice. Chaudhry, S.S., Gazzard, J., Baldock, C., Dixon, J., Rock, M.J., Skinner, G.C., Steel, K.P., Kielty, C.M., Dixon, M.J. Hum. Mol. Genet. (2001) [Pubmed]
  29. Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker. Sarfarazi, M., Akarsu, A.N., Sayli, B.S. Hum. Mol. Genet. (1995) [Pubmed]
  30. Syndactyly of Ft/+ mice correlates with an imbalance in bmp4 and fgf8 expression. Heymer, J., Rüther, U. Mech. Dev. (1999) [Pubmed]
  31. Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual. Sobetzko, D., Eich, G., Kalff-Suske, M., Grzeschik, K.H., Superti-Furga, A. Am. J. Med. Genet. (2000) [Pubmed]
  32. Herrmann multiple synostosis syndrome with neurological complications caused by spinal canal stenosis. Edwards, M.J., Rowe, L., Petroff, V. Am. J. Med. Genet. (2000) [Pubmed]
  33. Abnormalities resulting from intra-adnexal injection of glucose in the rabbit embryo--an experimental model of "amniotic disease". Clavert, J.M., Clavert, A., Berlizon, A., Buck, P. Progress in pediatric surgery. (1978) [Pubmed]
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