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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
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Disease relevance of Hypertelorism


High impact information on Hypertelorism

  • In contrast, excess SHH leads to a mediolateral widening of the FNP and a widening between the eyes, a condition known as hypertelorism [6].
  • In the most severe forms of the disease, the association of bicoronal craniosynostosis with hypertelorism and marked bulging of the temporal fossae were common hallmarks that might be helpful for clinical diagnosis [7].
  • We present a male infant with hypertelorism, severe myopia and sensorineural deafness, diaphragmatic hernia, and proteinuria [8].
  • Opitz G/BBB syndrome is a malformation syndrome of the ventral midline mainly characterized by hypertelorism, swallowing difficulties, hypospadias and developmental delay [9].
  • We describe an infant with complex glycerol kinase deficiency and mildly dysmorphic features similar to those seen in other patients, including an "hourglass" appearance of the middle of the face; hypertelorism; rounded palpebral fissures; esotropia; wide, flattened earlobes; and a downturned mouth [10].

Chemical compound and disease context of Hypertelorism


Biological context of Hypertelorism

  • Comparison with the three previously reported patients suggests a clinically distinct "trisomy 17p syndrome", i.e. pre- and postnatal growth retardation, microcephaly, antimongoloid slanting of palpebral fissures, hypertelorism, long philtrum with thin upper lip, micrognathia and high-arched palate [16].
  • Patients with 9q34.3 terminal deletion usually show a clinically recognizable phenotype characterized by specific facial features (microcephaly, flat face, arched eyebrows, hypertelorism, short nose, anteverted nostrils, carp mouth and protruding tongue) in combination with severe mental retardation, hypotonia, and other anomalies [17].

Anatomical context of Hypertelorism


Gene context of Hypertelorism


Analytical, diagnostic and therapeutic context of Hypertelorism


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  3. Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33). Al-Awadi, S.A., Farag, T.I., Naguib, K., Teebi, A., Cuschieri, A., Al-Othman, S., Sundareshan, T.S. J. Med. Genet. (1983) [Pubmed]
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  6. The role of sonic hedgehog in normal and abnormal craniofacial morphogenesis. Hu, D., Helms, J.A. Development (1999) [Pubmed]
  7. Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation. Lajeunie, E., El Ghouzzi, V., Le Merrer, M., Munnich, A., Bonaventure, J., Renier, D. J. Med. Genet. (1999) [Pubmed]
  8. Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity. Devriendt, K., Standaert, L., Van Hole, C., Devlieger, H., Fryns, J.P. J. Med. Genet. (1998) [Pubmed]
  9. Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome. Winter, J., Lehmann, T., Suckow, V., Kijas, Z., Kulozik, A., Kalscheuer, V., Hamel, B., Devriendt, K., Opitz, J., Lenzner, S., Ropers, H.H., Schweiger, S. Hum. Genet. (2003) [Pubmed]
  10. Dysmorphic features in patients with complex glycerol kinase deficiency. Scheuerle, A., Greenberg, F., McCabe, E.R. J. Pediatr. (1995) [Pubmed]
  11. Minor anomalies in offspring of epileptic mothers. Gaily, E., Granström, M.L., Hiilesmaa, V., Bardy, A. J. Pediatr. (1988) [Pubmed]
  12. Analysis of facial shape in children gestationally exposed to marijuana, alcohol, and/or cocaine. Astley, S.J., Clarren, S.K., Little, R.E., Sampson, P.D., Daling, J.R. Pediatrics (1992) [Pubmed]
  13. Pregnancy outcome after gestational exposure to amiodarone in Canada. Magee, L.A., Downar, E., Sermer, M., Boulton, B.C., Allen, L.C., Koren, G. Am. J. Obstet. Gynecol. (1995) [Pubmed]
  14. The prenatal diagnosis of Binder syndrome before 24 weeks of gestation: case report. Cook, K., Prefumo, F., Presti, F., Homfray, T., Campbell, S. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. (2000) [Pubmed]
  15. Minor malformation of skin and soft tissue of the columella and philtrum. Tsuchida, Y., Fukuda, O. Annals of plastic surgery. (1995) [Pubmed]
  16. Trisomy 17p due to a t(8;17) (p23;p11.2)pat translocation. Case report and review of the literature. Schrander-Stumpel, C., Schrander, J., Fryns, J.P., Hamers, G. Clin. Genet. (1990) [Pubmed]
  17. A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome. Harada, N., Visser, R., Dawson, A., Fukamachi, M., Iwakoshi, M., Okamoto, N., Kishino, T., Niikawa, N., Matsumoto, N. J. Hum. Genet. (2004) [Pubmed]
  18. Distal duplication 14q: report of three cases and further delineation of the syndrome. Sklower, S.L., Jenkins, E.C., Nolin, S.L., Duncan, C.J., Warburton, D., Yeboa, K.A., Merkrebs, A., Schwartz, R., Wisniewski, K., Stimson, C. Hum. Genet. (1984) [Pubmed]
  19. Clinical and behavioral characteristics in FG syndrome. Graham, J.M., Superneau, D., Rogers, R.C., Corning, K., Schwartz, C.E., Dykens, E.M. Am. J. Med. Genet. (1999) [Pubmed]
  20. Stabilization of the cervical spine in spondyloepiphyseal dysplasia congenita. LeDoux, M.S., Naftalis, R.C., Aronin, P.A. Neurosurgery (1991) [Pubmed]
  21. Leopard syndrome. Tong, K.L., Ding, Z.P., Chua, T. Singapore medical journal. (2001) [Pubmed]
  22. A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria. Titomanlio, L., Baumann, C., Bonyhay, G., Huten, Y., Oury, J.F., Vuillard, E., Garel, C., Terdjman, P., Verloes, A., Delezoide, A.L. Am. J. Med. Genet. A (2005) [Pubmed]
  23. X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. De Falco, F., Cainarca, S., Andolfi, G., Ferrentino, R., Berti, C., Rodríguez Criado, G., Rittinger, O., Dennis, N., Odent, S., Rastogi, A., Liebelt, J., Chitayat, D., Winter, R., Jawanda, H., Ballabio, A., Franco, B., Meroni, G. Am. J. Med. Genet. A (2003) [Pubmed]
  24. Transient neonatal diabetes mellitus in a child with paternal uniparental disomy of chromosome 6. Milenkovic, T., Zdravkovic, D., Gardner, R.J., Ignjatovic, M., Jankovic, B. Journal of pediatric endocrinology & metabolism : JPEM. (2001) [Pubmed]
  25. Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. So, J., Suckow, V., Kijas, Z., Kalscheuer, V., Moser, B., Winter, J., Baars, M., Firth, H., Lunt, P., Hamel, B., Meinecke, P., Moraine, C., Odent, S., Schinzel, A., van der Smagt, J.J., Devriendt, K., Albrecht, B., Gillessen-Kaesbach, G., van der Burgt, I., Petrij, F., Faivre, L., McGaughran, J., McKenzie, F., Opitz, J.M., Cox, T., Schweiger, S. Am. J. Med. Genet. A (2005) [Pubmed]
  26. Mig12, a novel Opitz syndrome gene product partner, is expressed in the embryonic ventral midline and co-operates with Mid1 to bundle and stabilize microtubules. Berti, C., Fontanella, B., Ferrentino, R., Meroni, G. BMC Cell Biol. (2004) [Pubmed]
  27. Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex. Wilkie, A.O., Zeitlin, H.C., Lindenbaum, R.H., Buckle, V.J., Fischel-Ghodsian, N., Chui, D.H., Gardner-Medwin, D., MacGillivray, M.H., Weatherall, D.J., Higgs, D.R. Am. J. Hum. Genet. (1990) [Pubmed]
  28. A case of Kallmann syndrome associated with Dandy-Walker malformation. Ueno, H., Yamaguchi, H., Katakami, H., Matsukura, S. Exp. Clin. Endocrinol. Diabetes (2004) [Pubmed]
  29. Monobloc and facial bipartition osteotomies: quantitative assessment of presenting deformity and surgical results based on computed tomography scans. Posnick, J.C., Waitzman, A., Armstrong, D., Pron, G. J. Oral Maxillofac. Surg. (1995) [Pubmed]
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