syndromic disease axial mesodermal dysplasia spectrum https://github.com/monarch-initiative/mondo/issues/6876 https://github.com/monarch-initiative/mondo/issues/6878 https://rarediseases.info.nih.gov/diseases/213/axial-mesodermal-dysplasia-spectrum https://www.malacards.org/card/axial_mesodermal_dysplasia_spectrum UMLS:C2931613 MONDO:0015944 MEDGEN:419853 blastogenesis defect MESH:C537790 GARD:0000213 SCTID:765755006 Russell Weaver Bull syndrome Orphanet:1834 Russell-Weaver-Bull syndrome Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula. disorder of development or morphogenesis