Loeys-Dietz syndrome type 1A; Furlong syndrome; Loeys-Dietz aortic aneurysm syndrome (LDS1A, LDS1)

Pathology

• aortic aneurysm syndrome with widespread systemic involvement
• arterial tortuosity & aneurysms
• structural brain abnormalities
• congenital heart disease
• aneurysm with dissection throughout the arterial tree

Genetics

• associated with defects in TGFBR1

Clinical manifestations

• craniosynostosis
• hypertelorism
• bifid uvula or cleft palate
• exotropy
• micrognathia & retrognathia
• intellectual deficit
• congenital heart disease
• translucent skin
• joint hyperlaxity

Notes

same syndrome as Loeys-Dietz syndrome type 1B

More general terms

• Loeys-Dietz syndrome
• familial aortic aneurysm

Database

• OMIM: https://mirror.omim.org/entry/609192