Edinburgh malformation syndrome https://rarediseases.info.nih.gov/diseases/2074/edinburgh-malformation-syndrome https://www.malacards.org/card/edinburgh_malformation_syndrome MEDGEN:167084 GARD:0002074 UMLS:C0795933 Edinburgh malformation syndrome Orphanet:1895 MONDO:0007519 Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991. OMIM:129850 typus Edinburgensis MESH:C563051 hereditary lethal multiple congenital anomalies/dysmorphic syndrome