has material basis in germline mutation in VANGL1 hereditary disease familial caudal dysgenesis https://www.malacards.org/card/familial_caudal_dysgenesis https://www.malacards.org/card/sacral_defect_with_anterior_meningocele NCIT:C99054 caudal dysgenesis familial type caudal dysgenesis syndrome SDAM Familial caudal dysgenesis is a rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies. caudal regression MEDGEN:418973 Rudd-Klimek syndrome MONDO:0010831 UMLS:C2931053 SCTID:722493007 GARD:0000215 familial caudal dysgenesis Orphanet:1768 OMIM:600145 caudal regression-sirenomelia spectrum