disease has basis in dysfunction of disease shares features of PTEN congenital nervous system disorder VACTERL/vater association VACTERL with hydrocephalus GARD:0000272 ICD10:Q87.8 MONDO:0010172 OMIM:276950 Orphanet:3412 Sujansky-Leonard syndrome UMLS:C1848599 VACTERL association with hydrocephalus VACTERL association with hydrocephaly VACTERL hydrocephaly VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association. VACTERL-H Vater association with hydrocephalus Vater association with macrocephaly and ventriculomegaly vertebral (V), anal (A), cardiac (C), tracheoesophageal (te), renal (R) and limb (L) anomalies and hydrocephaly multiple congenital anomalies/dysmorphic syndrome-intellectual disability syndromic anorectal malformation X-linked syndromic intellectual disability genetic multiple congenital anomalies/dysmorphic syndrome