The neurofaciodigitorenal (NFDR) syndrome.
We describe in two brothers a previously apparently unreported multiple congenital anomalies/mental retardation (MCA/MR) syndrome of high, prominent forehead, vertical groove on tip of nose, "cowlick," ear anomalies, acrorenal field defect (incipient unilateral triphalangism, broad halluces, with unilateral renal agenesis in one of the boys), megalencephaly associated with congenital hypotonia, severe mental retardation and highly abnormal EEG without seizures, intrauterine growth retardation and primordial shortness of stature in one brother. This is a Group III ("provisionally private") MCA/MR syndrome and presumed to be due to a Mendelian (either X-linked or autosomal recessive) mutation. We do not think these patients have the FG syndrome. The condition has been named the neurofaciodigitorenal (NFDR) syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003878:Dermatoglyphics; D004562:Electrocardiography; D004569:Electroencephalography; D005145:Face / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities*; D005808:Genes, Recessive; D006130:Growth Disorders / Q000151:congenital; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D008540:Meiosis; D009154:Mutation; D013577:Syndrome