has material basis in germline mutation in CYP26B1 lethal occipital encephalocele-skeletal dysplasia syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/6751 https://www.malacards.org/card/lethal_occipital_encephalocele_skeletal_dysplasia_syndrome https://www.malacards.org/card/radiohumeral_fusions_with_other_skeletal_and_craniofacial_anomalies MONDO:0013740 GARD:0017348 UMLS:C3280729 craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies radiohumeral fusions with other skeletal and craniofacial anomalies MEDGEN:482359 Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. OMIM:614416 Orphanet:293925 RHFCA syndromic craniosynostosis