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Seckel Syndrome

Reference work entry

In 1960, Seckel reported 2 personal cases and 13 cases from the literature of a clinical condition characterized by severe intrauterine and postnatal proportionate dwarfism, severe microcephaly, “bird-headed” profile with receding forehead and chin, large and beaked nose, severe mental retardation, and other anomalies (Majewski and Goecke 1982). Seckel syndrome (SCKL) is a rare heterogeneous type of primordial dwarfism with frequency of less than 1 in 10,000 live births.

Synonyms and Related Disorders

Bird-headed dwarfism; Microcephalic primordial dwarfism; Nanocephalic dwarfism; Seckel-type dwarfism

Genetics/Basic Defects

  1. 1.

    Inheritance: autosomal recessive

     
  2. 2.
    Genetic heterogeneity
    1. a.
      SCKL1: A gene for Seckel syndrome was mapped to human chromosome 3q22.1–q24 in two inbred Pakistani families originating from the same village (Driscoll 2003).
      1. i.

        The gene encoding ataxia-telangiectasia and Rad3-related protein (ATR) maps to the critical region to an interval of 5Mbp between markers...

Keywords

Patent Ductus Arteriosus Radial Head Cranial Suture Premature Closure Intestinal Atresia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. Abou-zahr, F., Bejjani, B., Kruyt, F. A. E., et al. (1999). Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome. American Journal of Medical Genetics, 83, 388–391.PubMedCrossRefGoogle Scholar
  2. Al-Dosari, M. S., Shaheen, R., Colak, D., et al. (2009). Novel CENPJ mutation causes Seckel syndrome. Journal of Medical Genetics, 47, 411–414.CrossRefGoogle Scholar
  3. Anderson, C. E., Wallerstein, R., Zamerowski, S. T., et al. (1997). Ring chromosome 4 mosaicism coincidence of oligomeganephronia and signs of Seckel syndrome. American Journal of Medical Genetics, 72, 281–285.PubMedCrossRefGoogle Scholar
  4. Arnold, S. R., Spicer, D., Kouseff, B., et al. (1999). Seckel-like syndrome in three siblings. Pediatric and Developmental Pathology, 2, 180–187.PubMedCrossRefGoogle Scholar
  5. Bangstad, H. J., Beck-Nielsen, H., Hother-Neilsen, O., et al. (1989). Primordial bird-headed nanism associated with progressive ataxia, early onset insulin resistant diabetes, goiter, and primary gonadal insufficiency. A new syndrome. Acta Paediatrica Scandinavica, 78, 488–493.PubMedCrossRefGoogle Scholar
  6. Bobabilla-Morales, L., Corona-Rivera, A., Corona-Rivera, J. R., et al. (2003). Chromosome instability induced in vitro with mitomycin C in five Seckel syndrome patients. American Journal of Medical Genetics, 123A, 148–152.PubMedCrossRefGoogle Scholar
  7. Bond, J., Roberts, E., Springell, K., et al. (2005). A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nature Genetics, 37, 353–355.PubMedCrossRefGoogle Scholar
  8. Børglum, A. D., Balslev, T., Haagerup, A., et al. (2001). A new locus for Seckel syndrome on chromosome 18p11.31-q11.2. European Journal of Human Genetics, 9, 753–757.PubMedCrossRefGoogle Scholar
  9. Butler, M. G., Hall, B. D., Maclean, R. N., et al. (1987). Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage? American Journal of Medical Genetics, 27, 645–649.PubMedCrossRefGoogle Scholar
  10. Courtens, W., Speleman, F., Messiaen, L., et al. (1997). Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome. American Journal of Medical Genetics, 71, 479–485.Google Scholar
  11. D'Angelo, V. A., Ceddia, A. M., Zelante, L., et al. (1998). Multiple intracranial aneurysms in a patient with Seckel syndrome. Child’s Nervous System, 14, 82–84.PubMedCrossRefGoogle Scholar
  12. De Elejalde, M. M., & Elejalde, B. R. (1984). Visualization of the fetal face by ultrasound. Journal of Craniofacial Genetics and Developmental Biology, 4, 251–257.PubMedGoogle Scholar
  13. Faivre, L., Le Merrer, M., Lyonnet, S., et al. (2002). Clinical and genetic heterogeneity of Seckel syndrome. American Journal of Medical Genetics, 112, 379–383.PubMedCrossRefGoogle Scholar
  14. Featherstone, L. S., Sherman, S. J., & Quigg, M. H. (1996). Prenatal diagnosis of Seckel syndrome. Journal of Ultrasound in Medicine, 15, 85–88.PubMedGoogle Scholar
  15. Goodship, J., Gill, H., Carter, J., et al. (2000). Autozygosity mapping of a Seckel syndrome locus to chromosome 3q22. 1-q24. American Journal of Human Genetics, 67, 498–503.PubMedCrossRefGoogle Scholar
  16. Griffith, E., Walker, S., Martin, C. A., et al. (2008). Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nature Genetics, 40, 232–236.PubMedCrossRefGoogle Scholar
  17. Guirgis, M. F., Lam, B. L., & Howard, C. W. (2001). Ocular manifestations of Seckel syndrome. American Journal of Ophthalmology, 132, 596–597.PubMedCrossRefGoogle Scholar
  18. Gul, A., Hassan, M. J., Hussain, S., et al. (2006). A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly. Journal of Human Genetics, 51, 760–764.PubMedCrossRefGoogle Scholar
  19. Harper, R. G., Orti, E., & Baker, R. K. (1967). Bird-headed dwarfs (Seckel’s syndrome). A familial pattern of developmental, dental, skeletal, genital, and central nervous system anomalies. Journal of Pediatrics, 70, 799–804.PubMedCrossRefGoogle Scholar
  20. Kilinç, M. O., Ninis, V. N., Uğur, S. A., et al. (2003). Is the novel SCKL3 at 14q23 the predominant Seckel locus? European Journal of Human Genetics, 11, 851–857.PubMedCrossRefGoogle Scholar
  21. Majewski, F. (1992). Caroline Crachami and the delineation of osteodysplastic primordial dwarfism type III, and autosomal recessive syndrome. American Journal of Medical Genetics, 44, 203–209.PubMedCrossRefGoogle Scholar
  22. Majewski, F., & Goecke, T. (1982). Studies of microcephalic primordial dwarfism I: Approach to a delineation of the Seckel syndrome. American Journal of Medical Genetics, 12, 7–21.PubMedCrossRefGoogle Scholar
  23. Majewski, F., & Goecke, T. O. (1998). Microcephalic osteodysplastic primordial dwarfism type II: Report of three cases and review. American Journal of Medical Genetics, 80, 25–31.PubMedCrossRefGoogle Scholar
  24. Majewski, F., Ranke, M., & Schinzel, A. (1982a). Studies of microcephalic primordial dwarfism II: The osteodysplastic type II of primordial dwarfism. American Journal of Medical Genetics, 12, 23–35.PubMedCrossRefGoogle Scholar
  25. Majewski, F., Stoeckenius, M., & Kemperdick, H. (1982b). Studies of microcephalic primordial dwarfism III: An intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles–osteodysplastic primordial dwarfism type III. American Journal of Medical Genetics, 12, 37–42.PubMedCrossRefGoogle Scholar
  26. Majoor-Krakauer, D. F., Wladimiroff, J. W., et al. (1987). Microcephaly, micrognathia, and bird-headed dwarfism: Prenatal diagnosis of a Seckel-like syndrome. American Journal of Medical Genetics, 27, 183–188.PubMedCrossRefGoogle Scholar
  27. McKusick, V. A., Mahloudji, M., Abbott, M. H., et al. (1967). Seckel’s bird-headed dwarfism. The New England Journal of Medicine, 277, 279–286.PubMedCrossRefGoogle Scholar
  28. Meinecke, P., & Passarge, E. (1991). Microcephalic osteodysplastic primordial dwarfism type I/III in sibs. Journal of Medical Genetics, 28, 795–800.PubMedCrossRefGoogle Scholar
  29. Meinecke, P., Schaefer, E., Wiedemann, H. R., et al. (1991). Microcephalic osteodysplastic primordial dwarfism: Further evidence for identity of the so-called types I and III. American Journal of Medical Genetics, 39, 232–236.PubMedCrossRefGoogle Scholar
  30. Nadjari, M., Fasouliotis, S. J., Ariel, I., et al. (2000). Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III. Prenatal Diagnosis, 20, 666–669.PubMedCrossRefGoogle Scholar
  31. O’Driscoll, M., Ruiz-Perez, V. L., Woods, C. G., et al. (2003). A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. Nature Genetics, 33, 497–501.PubMedCrossRefGoogle Scholar
  32. Rauch, A., Thiel, C. T., Schindler, D., et al. (2008). Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science, 319, 816–819.PubMedCrossRefGoogle Scholar
  33. Sauk, J. J., Litt, R., Espiritu, C. E., et al. (1973). Familial bird-headed dwarfism (Seckel’s syndrome). Journal of Medical Genetics, 10, 196–198.PubMedCrossRefGoogle Scholar
  34. Seckel, H. P. G. (1960). Bird headed dwarfs: Studies in developmental anthropology including human proportions. Springfield, IL: CC Thomas.Google Scholar
  35. Shanske, A., Caride, D. G., Menasse-Palmer, L., et al. (1997). Central nervous system anomalies in Seckel syndrome: Report of a new family and review of the literature. American Journal of Medical Genetics, 70, 155–158.PubMedCrossRefGoogle Scholar
  36. Syrrou, M., Georgiou, I., Paschopoulos, M., et al. (1995). Seckel syndrome in a family with three affected children and hematological manifestations associated with chromosome instability. Genetic Counseling, 6, 37–41.PubMedGoogle Scholar
  37. Thompson, E., & Pembrey, M. (1985). Seckel syndrome: An overdiagnosed syndrome. Journal of Medical Genetics, 22, 192–201.PubMedCrossRefGoogle Scholar
  38. Willems, M., Geneviève, D., Borck, G., et al. (2009). Molecular analysis of pericentrin gene (PCNT) series of 24 Seckel/MOPD II families. Journal of Medical Genetics, 47, 797–802.PubMedCrossRefGoogle Scholar

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