Lethal arteriopathy syndrome due to fibulin-4 deficiency

Get in touch with RARE Concierge.

Contact RARE Concierge

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 May 2024

Newly diagnosed with
Lethal arteriopathy syndrome due to fibulin-4 deficiency?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Clinical Trials

For a list of clinical trials in this disease area, please click here.