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Disease relevance of Polydactyly


Psychiatry related information on Polydactyly


High impact information on Polydactyly

  • Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder predominantly characterized by obesity, retinal dystrophy, polydactyly, learning difficulties, hypogenitalism and renal malformations, with secondary features that include diabetes mellitus, endocrinological dysfunction and behavioural abnormalities [8].
  • Ellis-van Creveld syndrome (EvC, MIM 225500) is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly and dysplastic nails and teeth [9].
  • The polydactyly of GCPS is commonly preaxial and that of PHS is typically central or postaxial [10].
  • Point mutations in the long-range, limb-specific regulatory element of the SHH gene are responsible for the human limb abnormality called preaxial polydactyly (PPD) [11].
  • We studied the involvement of GLI3 in additional phenotypes of digital abnormalities in one family (UR003) with preaxial polydactyly type-IV (PPD-IV), three families (UR014, UR015, and UR016) with dominant PAP-A/B (with PPD-A and -B in the same family), and one family with PHS [12].

Chemical compound and disease context of Polydactyly


Biological context of Polydactyly


Anatomical context of Polydactyly


Gene context of Polydactyly

  • Bardet-Biedl syndrome (BBS) is an uncommon multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction [27].
  • Mutations in a conserved non-coding region in intron 5 of the Lmbr1 locus, which is 1 Mb away from the sonic hedgehog (Shh) coding sequence, are responsible for mouse and human preaxial polydactyly with mirror-image digit duplications [28].
  • We report here a series of nine patients diagnosed in infancy with MKKS because of the presence of vaginal atresia and postaxial polydactyly, who later developed obesity and retinal dystrophy, thus turning out to be instances of BBS [29].
  • Mutations in the human GLI3 gene have been identified in Greig cepalopolysyndactyly, Pallister-Hall syndrome (PHS), and postaxial polydactyly type-A (PAP-A) [12].
  • Mutations in the human homologue of csal1, termed Hsal1/SALL1, result in a condition known as Townes-Brocks syndrome (TBS), which is characterized by preaxial polydactyly [30].


  1. Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. Fan, Y., Esmail, M.A., Ansley, S.J., Blacque, O.E., Boroevich, K., Ross, A.J., Moore, S.J., Badano, J.L., May-Simera, H., Compton, D.S., Green, J.S., Lewis, R.A., van Haelst, M.M., Parfrey, P.S., Baillie, D.L., Beales, P.L., Katsanis, N., Davidson, W.S., Leroux, M.R. Nat. Genet. (2004) [Pubmed]
  2. Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Karmous-Benailly, H., Martinovic, J., Gubler, M.C., Sirot, Y., Clech, L., Ozilou, C., Auge, J., Brahimi, N., Etchevers, H., Detrait, E., Esculpavit, C., Audollent, S., Goudefroye, G., Gonzales, M., Tantau, J., Loget, P., Joubert, M., Gaillard, D., Jeanne-Pasquier, C., Delezoide, A.L., Peter, M.O., Plessis, G., Simon-Bouy, B., Dollfus, H., Le Merrer, M., Munnich, A., Encha-Razavi, F., Vekemans, M., Attié-Bitach, T. Am. J. Hum. Genet. (2005) [Pubmed]
  3. Molecular mechanisms underlying limb anomalies associated with cholesterol deficiency during gestation: implications of Hedgehog signaling. Gofflot, F., Hars, C., Illien, F., Chevy, F., Wolf, C., Picard, J.J., Roux, C. Hum. Mol. Genet. (2003) [Pubmed]
  4. Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. Yen, H.J., Tayeh, M.K., Mullins, R.F., Stone, E.M., Sheffield, V.C., Slusarski, D.C. Hum. Mol. Genet. (2006) [Pubmed]
  5. Meckel syndrome. Salonen, R., Paavola, P. J. Med. Genet. (1998) [Pubmed]
  6. Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). Chiang, A.P., Nishimura, D., Searby, C., Elbedour, K., Carmi, R., Ferguson, A.L., Secrist, J., Braun, T., Casavant, T., Stone, E.M., Sheffield, V.C. Am. J. Hum. Genet. (2004) [Pubmed]
  7. Evaluation and molecular characterization of EHD1, a candidate gene for Bardet-Biedl syndrome 1 (BBS1). Haider, N.B., Searby, C., Galperin, E., Mintz, L., Horowitz, M., Stone, E.M., Sheffield, V.C. Gene (1999) [Pubmed]
  8. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Katsanis, N., Beales, P.L., Woods, M.O., Lewis, R.A., Green, J.S., Parfrey, P.S., Ansley, S.J., Davidson, W.S., Lupski, J.R. Nat. Genet. (2000) [Pubmed]
  9. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Ruiz-Perez, V.L., Ide, S.E., Strom, T.M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M.H., Goodship, J. Nat. Genet. (2000) [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. Preaxial polydactyly: a model for defective long-range regulation in congenital abnormalities. Lettice, L.A., Hill, R.E. Curr. Opin. Genet. Dev. (2005) [Pubmed]
  12. The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. Radhakrishna, U., Bornholdt, D., Scott, H.S., Patel, U.C., Rossier, C., Engel, H., Bottani, A., Chandal, D., Blouin, J.L., Solanki, J.V., Grzeschik, K.H., Antonarakis, S.E. Am. J. Hum. Genet. (1999) [Pubmed]
  13. An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function. Caronia, G., Goodman, F.R., McKeown, C.M., Scambler, P.J., Zappavigna, V. Development (2003) [Pubmed]
  14. Studies on induction of polydactyly in rats with cytosine arabinoside. Scott, W.J., Ritter, E.J., Wilson, J.G. Dev. Biol. (1975) [Pubmed]
  15. Teratogen-induced limb defects. Holmes, L.B. Am. J. Med. Genet. (2002) [Pubmed]
  16. Azathioprine teratogenicity: review of the literature and case report. Williamson, R.A., Karp, L.E. Obstetrics and gynecology. (1981) [Pubmed]
  17. Cardiovascular management of pregnant women with a heart valve prosthesis. Casanegra, P., Avilés, G., Maturana, G., Dubernet, J. Am. J. Cardiol. (1975) [Pubmed]
  18. GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization. Shin, S.H., Kogerman, P., Lindström, E., Toftgárd, R., Biesecker, L.G. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  19. Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a Chinese kindred. Zhao, H., Tian, Y., Breedveld, G., Huang, S., Zou, Y., Y, J., Chai, J., Li, H., Li, M., Oostra, B.A., Lo, W.H., Heutink, P. Eur. J. Hum. Genet. (2002) [Pubmed]
  20. Frontonasal dysplasia, coronal craniosynostosis, pre- and postaxial polydactyly and split nails: a new autosomal dominant mutant with reduced penetrance and variable expression? Kwee, M.L., Lindhout, D. Clin. Genet. (1983) [Pubmed]
  21. Diagnosis of the Meckel-Gruber syndrome at eleven to fourteen weeks' gestation. Sepulveda, W., Sebire, N.J., Souka, A., Snijders, R.J., Nicolaides, K.H. Am. J. Obstet. Gynecol. (1997) [Pubmed]
  22. Association of dominant marker traits and metric traits in chickens. Shoffner, R.N., Otis, J.S., Garwood, V.A. Poult. Sci. (1993) [Pubmed]
  23. Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome. Sheffield, V.C. Pediatr. Res. (2004) [Pubmed]
  24. Sibs with anencephaly, anophthalmia, clefts, omphalocele, and polydactyly: hydrolethalus or acrocallosal syndrome? Christensen, B., Blaas, H.G., Isaksen, C.V., Roald, B., Orstavik, K.H. Am. J. Med. Genet. (2000) [Pubmed]
  25. Discrepancies in upper and lower limb patterning in split hand foot malformation. Elliott, A.M., Reed, M.H., Roscioli, T., Evans, J.A. Clin. Genet. (2005) [Pubmed]
  26. Fetal laser surgery in genetic polydactyly mice. Naruse, I., Kameyama, Y. Teratology (1990) [Pubmed]
  27. BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. Katsanis, N., Eichers, E.R., Ansley, S.J., Lewis, R.A., Kayserili, H., Hoskins, B.E., Scambler, P.J., Beales, P.L., Lupski, J.R. Am. J. Hum. Genet. (2002) [Pubmed]
  28. Elimination of a long-range cis-regulatory module causes complete loss of limb-specific Shh expression and truncation of the mouse limb. Sagai, T., Hosoya, M., Mizushina, Y., Tamura, M., Shiroishi, T. Development (2005) [Pubmed]
  29. Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes. David, A., Bitoun, P., Lacombe, D., Lambert, J.C., Nivelon, A., Vigneron, J., Verloes, A. J. Med. Genet. (1999) [Pubmed]
  30. csal1 is controlled by a combination of FGF and Wnt signals in developing limb buds. Farrell, E.R., Münsterberg, A.E. Dev. Biol. (2000) [Pubmed]
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