Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies

Daneman et al. (1985) reported 3 cases, 2 of them in a brother and sister, of children with multinodular goiter, cystic kidney disease, and digital anomalies (bilateral digitalized thumbs and preaxial polydactyly of the feet). (The 'digitalized' thumb was presumably triphalangeal; see 174500.) In the family with affected sibs, the mother, maternal grandmother, and 2 maternal aunts had digitalized thumbs but no known abnormality of thyroid or kidneys. In the third case, in a 14-year-old boy who presented with goiter, there was postaxial polydactyly of the right hand, and right nephrectomy for 'unilateral polycystic kidney disease' was performed at 2 months of age. A 12-year-old brother had postaxial polydactyly of the left hand and a 19-year-old sister had goiter. This may be a syndrome of variable expression and incomplete penetrance inherited as a dominant.