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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
General
Loeys-Dietz syndrome
familial aortic aneurysm
Database Correlations
OMIM 609192
References
UniProt :accession P36897