Skip to main content
NCBI home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1998 Mar;35(3):238–240. doi: 10.1136/jmg.35.3.238

Costello syndrome.

N Philip 1, S Sigaudy 1
PMCID: PMC1051249  PMID: 9541110

Abstract

Costello syndrome is characterised by postnatal growth deficiency, coarse facies, redundant skin on the neck, palms, soles, and fingers, dark skin, acanthosis nigricans, and papillomata. The natural history evolves in two phases, a severe failure to thrive during the first months contrasting with a normal weight gain in later life. Cardiomyopathy is frequent but other visceral involvement is rare. Mild to moderate mental retardation is usual and most patients exhibit a characteristic sociable and friendly personality. The pathogenesis and molecular basis of the syndrome are unknown and the diagnosis is reliant on clinical expertise. Papillomata represent the most characteristic manifestation but may arise late in life. The peculiar course of the disease, the typical facies, and the ectodermal involvement with loose and hyperpigmented skin are characteristic enough to allow an early diagnosis. Most cases have been sporadic, suggesting de novo dominant mutations.

Full text

PDF
238

Images in this article

238Image
on p.238
239Image
on p.239
239Image
on p.239
239Image
on p.239

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Borochowitz Z., Pavone L., Mazor G., Rizzo R., Dar H. New multiple congenital anomalies: mental retardation syndrome (MCA/MR) with facio-cutaneous-skeletal involvement. Am J Med Genet. 1992 Jul 1;43(4):678–685. doi: 10.1002/ajmg.1320430405. [DOI] [PubMed] [Google Scholar]
  2. Costello J. M. A new syndrome: mental subnormality and nasal papillomata. Aust Paediatr J. 1977 Jun;13(2):114–118. doi: 10.1111/j.1440-1754.1977.tb01135.x. [DOI] [PubMed] [Google Scholar]
  3. Costello J. M. Costello syndrome: update on the original cases and commentary. Am J Med Genet. 1996 Mar 15;62(2):199–201. doi: 10.1002/ajmg.1320620203. [DOI] [PubMed] [Google Scholar]
  4. Czeizel A. E., Tímár L. Hungarian case with Costello syndrome and translocation t(1,22) Am J Med Genet. 1995 Jul 3;57(3):501–503. doi: 10.1002/ajmg.1320570331. [DOI] [PubMed] [Google Scholar]
  5. Davies S. J., Hughes H. E. Costello syndrome: natural history and differential diagnosis of cutis laxa. J Med Genet. 1994 Jun;31(6):486–489. doi: 10.1136/jmg.31.6.486. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Der Kaloustian V. M. Not a new MCA/MR syndrome but probably Costello syndrome? Am J Med Genet. 1993 Aug 15;47(2):170–174. doi: 10.1002/ajmg.1320470206. [DOI] [PubMed] [Google Scholar]
  7. Di Rocco M., Gatti R., Gandullia P., Barabino A., Picco P., Borrone C. Report on two patients with Costello syndrome and sialuria. Am J Med Genet. 1993 Nov 15;47(7):1135–1140. doi: 10.1002/ajmg.1320470737. [DOI] [PubMed] [Google Scholar]
  8. Lurie I. W. Genetics of the Costello syndrome. Am J Med Genet. 1994 Sep 1;52(3):358–359. doi: 10.1002/ajmg.1320520321. [DOI] [PubMed] [Google Scholar]
  9. Martin R. A., Jones K. L. Delineation of the Costello syndrome. Am J Med Genet. 1991 Dec 1;41(3):346–349. doi: 10.1002/ajmg.1320410316. [DOI] [PubMed] [Google Scholar]
  10. Martin R. A., Jones K. L. Facio-cutaneous-skeletal syndrome is the Costello syndrome. Am J Med Genet. 1993 Aug 15;47(2):169–73. doi: 10.1002/ajmg.1320470205. [DOI] [PubMed] [Google Scholar]
  11. Mori M., Yamagata T., Mori Y., Nokubi M., Saito K., Fukushima Y., Momoi M. Y. Elastic fiber degeneration in Costello syndrome. Am J Med Genet. 1996 Feb 2;61(4):304–309. doi: 10.1002/(SICI)1096-8628(19960202)61:4<304::AID-AJMG2>3.0.CO;2-U. [DOI] [PubMed] [Google Scholar]
  12. Patton M. A., Baraitser M. Cutis laxa and the Costello syndrome. J Med Genet. 1993 Jul;30(7):622–622. doi: 10.1136/jmg.30.7.622. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Philip N., Mancini J. Costello syndrome and facio-cutaneous-skeletal syndrome. Am J Med Genet. 1993 Aug 15;47(2):174–175. doi: 10.1002/ajmg.1320470209. [DOI] [PubMed] [Google Scholar]
  14. Say B., Güsavaş M., Morgan H., York C. The Costello syndrome. Am J Med Genet. 1993 Aug 15;47(2):163–165. doi: 10.1002/ajmg.1320470203. [DOI] [PubMed] [Google Scholar]
  15. Teebi A. S. Costello or facio-cutaneous-skeletal syndrome? Am J Med Genet. 1993 Aug 15;47(2):172–174. doi: 10.1002/ajmg.1320470207. [DOI] [PubMed] [Google Scholar]
  16. Teebi A. S., Shaabani I. S. Further delineation of Costello syndrome. Am J Med Genet. 1993 Aug 15;47(2):166–168. doi: 10.1002/ajmg.1320470204. [DOI] [PubMed] [Google Scholar]
  17. Umans S., Decock P., Fryns J. P. Costello syndrome: the natural history of a true postnatal growth retardation syndrome. Genet Couns. 1995;6(2):121–125. [PubMed] [Google Scholar]
  18. Zampino G., Mastroiacovo P., Ricci R., Zollino M., Segni G., Martini-Neri M. E., Neri G. Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology. Am J Med Genet. 1993 Aug 15;47(2):176–183. doi: 10.1002/ajmg.1320470210. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES