Lethal arteriopathy syndrome due to fibulin-4 deficiency
A rare genetic vascular disorder characterized by severe aneurysmal dilatation elongation and tortuosity of the thoracic aorta its branches and pulmonary arteries with stenosis at various typical locations typically resulting in infantile demise. Variable associated features may include cutis laxa long philtrum with thin vermillion border hypertelorism sagging cheeks arachnodactyly joint laxity and pectus deformities.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Lethal arteriopathy syndrome due to fibulin-4 deficiency?
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Advocacy Organizations
Myhre Syndrome Foundation
Myhre Syndrome Foundation is a patient advocacy organization dedicated to providing hope and improving the lives of those impacted by Myhre syndrome.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.