Evidence for genetic anticipation in the oculodentodigital syndrome

Am J Med Genet. 1997 Jul 11;71(1):36-41.


Oculodentodigital syndrome (O.D.) is an autosomal dominant disorder comprising facial anomalies, syndactyly, microcorneae, dental enamel hypoplasia, and leukodystrophy. We describe a four generation family with O.D. in which anomalies such as syndactyly appear congenitally, whereas neurological (i.e., leukodystrophic) signs and symptoms tend to be expressed in a more severe form and/or at an earlier age of onset in successive generations of the kindred. This pattern of phenotypic expression is consistent with the phenomenon of genetic anticipation, and we suggest that O.D. may be a trinucleotide repeat disorder.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / epidemiology
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / physiopathology
  • Adult
  • Age of Onset
  • Eye Abnormalities / genetics
  • Face / abnormalities
  • Female
  • Humans
  • Male
  • Nervous System Diseases / epidemiology
  • Nervous System Diseases / genetics
  • Nervous System Diseases / physiopathology
  • Nose / abnormalities
  • Pedigree
  • Syndactyly / genetics
  • Syndrome
  • Tooth Abnormalities / genetics
  • Trinucleotide Repeats