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.
MONDO:0002254
syndromic disease
is_a
MONDO:0005385
vascular disorder
is_a
MONDO:0005516
osteochondrodysplasia
is_a
MONDO:0023603
hereditary disorder of connective tissue
is_a
MONDO:0100237
inherited cutis laxa
is_a
EMILIN1-related arterial tortuosity syndrome
exact