The acrocallosal syndrome.
We report two unrelated patients, a three-year-old girl and an 88/12 year-old boy with the newly described "acrocallosal" syndrome. The main manifestations of the syndrome are unusual facial appearance, pre- and postaxial polydactyly, mental retardation, and absence of the corpus callosum. Cause remains unknown.
D000015:Abnormalities, Multiple / Q000150:complications*; D061085:Agenesis of Corpus Callosum; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000150:complications; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D009958:Orofaciodigital Syndromes / Q000150:complications*; D013577:Syndrome