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Disease relevance of Dysostoses

  • Mutations in genes encoding Notch pathway components underlie three inherited human diseases: Alagille syndrome, spondylocostal dysostosis, and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy [1].
  • The similarity in the phenotypes we describe here and that of some human birth defects, such as spondylocostal dysostosis, raises the possibility that mutations in Tbx6 or components of this pathway may be responsible for these defects [2].
  • The disorder is characterized by frontonasal dysostosis, coronal craniostenosis, and the variable presence of other skeletal defects, including short webbed neck, sloping shoulders, polydactyly, syndactyly, and broad first toes [3].
  • Conditions treated were facial cleft (n = 5), frontonasal dysplasia (n = 7) and facial dysostosis (n = 8).Intra-operative complications included major haemorrhage (n = 4), bradycardia (n = 3) and unintentional tracheal extubation (n = 1) [4].
  • A particular middle phalangeal type of ASPs is found in a distinct variety of multiple epiphyseal dysplasia with marked retardation of bone age and severe coxarthrosis in adult life, previously reported as "hereditary peripheral dysostosis" [Bachman, 1967: Proc R Soc Med 60:21-22; Giedion, 1969: Fortschr Rontgenstr 110:507-524] [5].

Psychiatry related information on Dysostoses


High impact information on Dysostoses

  • Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis [7].
  • Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis [8].
  • Spondylocostal dysostosis (SD, MIM 277300) is a group of vertebral malsegmentation syndromes with reduced stature resulting from axial skeletal defects [7].
  • Mutations in the DSL (Delta, Serrate, Lag2) Notch (N) ligand Delta-like (Dll) 3 cause skeletal abnormalities in spondylocostal dysostosis, which is consistent with a critical role for N signaling during somitogenesis [9].
  • Mutated MESP2 causes spondylocostal dysostosis in humans [10].

Chemical compound and disease context of Dysostoses


Biological context of Dysostoses


Anatomical context of Dysostoses


Gene context of Dysostoses

  • Dynamic expression patterns of the pudgy/spondylocostal dysostosis gene Dll3 in the developing nervous system [19].
  • This examination suggested that mutations at the PRRX1 and/or PRRX2 loci could result in Nager Acrofacial Dysostosis (NAFD) syndrome [20].
  • Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome [21].
  • A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis [22].
  • The map location and expression pattern suggest ZFP-37 as a candidate gene for a craniofacial-limb malformation, Nager syndrome (acrofacial dysostosis) [23].

Analytical, diagnostic and therapeutic context of Dysostoses


  1. Notch signaling and inherited disease syndromes. Gridley, T. Hum. Mol. Genet. (2003) [Pubmed]
  2. Defective somite patterning in mouse embryos with reduced levels of Tbx6. White, P.H., Farkas, D.R., McFadden, E.E., Chapman, D.L. Development (2003) [Pubmed]
  3. Craniofrontonasal dysostosis with deafness and axillary pterygia. Michels, V.V., Derleth, D.P., Hoffman, A.D., Goldston, A.S. Am. J. Med. Genet. (1989) [Pubmed]
  4. Anaesthetic management in facial bipartition surgery: the experience of one centre. Mallory, S., Yap, L.H., Jones, B.M., Bingham, R. Anaesthesia. (2004) [Pubmed]
  5. Angel-shaped phalango-epiphyseal dysplasia (ASPED): identification of a new genetic bone marker. Giedion, A., Prader, A., Fliegel, C., Krasikov, N., Langer, L., Poznanski, A. Am. J. Med. Genet. (1993) [Pubmed]
  6. Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes. Verloes, A., Temple, I.K., Bonnet, S., Bottani, A. Am. J. Med. Genet. (1997) [Pubmed]
  7. Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Bulman, M.P., Kusumi, K., Frayling, T.M., McKeown, C., Garrett, C., Lander, E.S., Krumlauf, R., Hattersley, A.T., Ellard, S., Turnpenny, P.D. Nat. Genet. (2000) [Pubmed]
  8. 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]
  9. The divergent DSL ligand Dll3 does not activate Notch signaling but cell autonomously attenuates signaling induced by other DSL ligands. Ladi, E., Nichols, J.T., Ge, W., Miyamoto, A., Yao, C., Yang, L.T., Boulter, J., Sun, Y.E., Kintner, C., Weinmaster, G. J. Cell Biol. (2005) [Pubmed]
  10. Mutated MESP2 causes spondylocostal dysostosis in humans. Whittock, N.V., Sparrow, D.B., Wouters, M.A., Sillence, D., Ellard, S., Dunwoodie, S.L., Turnpenny, P.D. Am. J. Hum. Genet. (2004) [Pubmed]
  11. Haplotype and linkage disequilibrium analysis of the CRMP1 and EVC genes. Sivakumaran, T.A., Lesperance, M.M. Int. J. Mol. Med. (2004) [Pubmed]
  12. Cranio-facial dysmorphism: experimental study in the mouse, clinical applications. Glineur, R., Louryan, S., Lemaître, A., Evrard, L., Rooze, M., De Vos, L. Surgical and radiologic anatomy : SRA. (1999) [Pubmed]
  13. Therapeutic aspects of maxillonasal dysostosis (Binder syndrome). Tessier, P., Tulasne, J.F., Delaire, J., Resche, F. Head & neck surgery. (1981) [Pubmed]
  14. Histochemistry and ultrastructure of the growth plate in metaphyseal dysostosis: further observations on the structure of the cartilage matrix. Maynard, J.A., Ippolito, E.G., Ponseti, I.V., Mickelson, M.R. Journal of pediatric orthopedics. (1981) [Pubmed]
  15. Carbohydrate-deficient glycoprotein syndrome type I: a new cause of dysostosis multiplex. Garel, C., Baumann, C., Besnard, M., Ogier, H., Jaeken, J., Hassan, M. Skeletal radiology. (1998) [Pubmed]
  16. Defective expression of early activation genes in cartilage-hair hypoplasia (CHH) with severe combined immunodeficiency (SCID). Castigli, E., Irani, A.M., Geha, R.S., Chatila, T. Clin. Exp. Immunol. (1995) [Pubmed]
  17. Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester. Lam, Y.H., Eik-Nes, S.H., Tang, M.H., Lee, C.P., Nicholls, J.M. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. (1999) [Pubmed]
  18. Acampomelic campomelic syndrome. Moog, U., Jansen, N.J., Scherer, G., Schrander-Stumpel, C.T. Am. J. Med. Genet. (2001) [Pubmed]
  19. Dynamic expression patterns of the pudgy/spondylocostal dysostosis gene Dll3 in the developing nervous system. Kusumi, K., Dunwoodie, S.L., Krumlauf, R. Mech. Dev. (2001) [Pubmed]
  20. Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome. Norris, R.A., Scott, K.K., Moore, C.S., Stetten, G., Brown, C.R., Jabs, E.W., Wulfsberg, E.A., Yu, J., Kern, M.J. Mamm. Genome (2000) [Pubmed]
  21. Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome. Dauwerse, J.G., Bouman, K., van Essen, A.J., van Der Hout, A.H., Kolsters, G., Breuning, M.H., Peters, D.J. J. Med. Genet. (2002) [Pubmed]
  22. A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. Ye, X., Song, G., Fan, M., Shi, L., Jabs, E.W., Huang, S., Guo, R., Bian, Z. Hum. Genet. (2006) [Pubmed]
  23. Cloning, characterization, and chromosomal assignment of the human ortholog of murine Zfp-37, a candidate gene for Nager syndrome. Dreyer, S.D., Zhou, L., Machado, M.A., Horton, W.A., Zabel, B., Winterpacht, A., Lee, B. Mamm. Genome (1998) [Pubmed]
  24. Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome? Guion-Almeida, M.L., Richieri-Costa, A. Clin. Dysmorphol. (1999) [Pubmed]
  25. Hemorrhage in development of the face. Poswillo, D. Birth Defects Orig. Artic. Ser. (1975) [Pubmed]
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