has material basis in germline mutation in EMILIN1 syndromic disease vascular disorder osteochondrodysplasia hereditary disorder of connective tissue inherited cutis laxa arterial tortuosity-bone fragility syndrome https://github.com/monarch-initiative/mondo/issues/9742 https://www.malacards.org/card/arterial_tortuosity_bone_fragility_syndrome A syndromic disease with a spectrum of manifestations in the cardiovascular system and other organ systems caused by disease-causing variants in the EMILIN1 gene, inherited in an autosomal recessive manner. Affected individuals have impaired elastogenesis with defective collagen fibrillogenesis which can lead to arterial tortuosity, bone fragility and other manifestations including dysmorphic facial features, cutis laxa, joint hypermobility, congenital heart malformations, arterial stenosis, and aortic root dilatation. Cases may present prenatally or in early childhood. UMLS:C5935641 OMIM:620908 GARD:0028086 EMILIN1-related arterial tortuosity syndrome MONDO:0971179 MEDGEN:1855920