Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6;13 translocation

Clin Dysmorphol. 1993 Jul;2(3):274-7.

Abstract

The split-hand/split-foot anomaly is a component of several disorders which may occur sporadically or be transmitted as autosomal dominant or autosomal recessive traits. We describe a severely mentally handicapped patient with ectrodactyly of both feet in association with extreme microphthalmia, central cleft-lip and palate and mental retardation. She has an apparent de novo 46,XX,t(6;13) (q21;q12) unbalanced translocation. Either of these breakpoints may be the locus for the ectrodactyly-ectodermal dysplasia-facial cleft (EEC) syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Chromosome Banding
  • Chromosomes, Human, Pair 13*
  • Chromosomes, Human, Pair 6*
  • Cleft Lip / genetics
  • Cleft Palate / genetics
  • Female
  • Foot Deformities, Congenital / genetics
  • Humans
  • Intellectual Disability / genetics
  • Mandible / abnormalities
  • Translocation, Genetic*