syndromic intellectual disability congenital nervous system disorder neurofaciodigitorenal syndrome Freire Maia-Pinheiro-Opitz syndrome Freire-Maia Pinheiro Opitz syndrome GARD:0003964 ICD10:Q87.8 MESH:C537388 MONDO:0009740 Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997. Nfdr syndrome OMIM:256690 Orphanet:2673 SCTID:725908007 UMLS:C0796088 https://rarediseases.info.nih.gov/diseases/3964/neurofaciodigitorenal-syndrome neurofaciodigitorenal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability syndromic urogenital tract malformation syndromic renal or urinary tract malformation