Term Name:	arterial tortuosity-bone fragility syndrome
Synonyms:	ATBFS
Definition:	A syndrome characterized by congenital severe tortuosity of the aorta and its side branches, including the carotid, pulmonary, and subclavian arteries, and prenatal and neonatal fractures that has_material_basis_in homozygous or compound heterozygous mutation in the EMILIN1 gene on chromosome 2p23.
Ontology:	Human Disease [DOID:0070845]   ( DOID:0070845 )