Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6;13 translocation.
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.
Viljoen
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DL
Department of Human Genetics, University of Cape Town Medical School, Observatory, South Africa.
Smart
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R
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002871:Chromosome Banding; D002882:Chromosomes, Human, Pair 13; D002896:Chromosomes, Human, Pair 6; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008334:Mandible / Q000002:abnormalities; D014178:Translocation, Genetic