Aglossia-adactylia syndrome.
Aglossia-adactylia is described in two male patients, aged 31 and 21 years old. Including a previous reported case (Nevin, Dodge, and Kernohan, 1970) there are three patients with this syndrome in Northern Ireland. The aetiology is unknown but in spite of the extreme variability of the clinical manifestation, a dominant mutant gene cannot be ruled out.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D003878:Dermatoglyphics; D005385:Fingers / Q000002:abnormalities*; D005799:Genes, Dominant; D006801:Humans; D007621:Karyotyping; D007866:Leg / Q000002:abnormalities; D008297:Male; D009154:Mutation; D009660:Northern Ireland; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*; D014059:Tongue / Q000002:abnormalities* / Q000235:genetics