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Loeys-Dietz syndrome
Genetics:
- two such syndromes 1A & 1B associated with defects in TGFBR1 & two others (1B & 2B) with TGFBR2
a) Loeys-Dietz syndrome type 1A
b) Loeys-Dietz syndrome type 1B
c) Loeys-Dietz syndrome type 2A
d) Loeys-Dietz syndrome type 2B
Clinical manifestations:
- bifid uvula or cleft palate
- hypertelorism
- craniosynostosis
- skeletal features similar to Marfan syndrome
- thin, translucent skin similar to Ehlers-Danlos syndrome
Radiology:
- MRI of the entire arterial system, from head to pelvis, baseline & annually
Management:
- repair of aortic aneurysm when >= 4.4-4.6 cm
Specific
Loeys-Dietz syndrome type 1A; Furlong syndrome; Loeys-Dietz aortic aneurysm syndrome (LDS1A, LDS1)
Loeys-Dietz syndrome type 1B (LDS1B)
Loeys-Dietz syndrome type 2A (LDS2A)
Loeys-Dietz syndrome type 2B (LDS2B); Marfan syndrome type 2
General
genetic syndrome (multisystem disorder)
References
- UniProt :accession P36897
- Medical Knowledge Self Assessment Program (MKSAP) 16
American College of Physicians, Philadelphia 2012