Syndromes by key features Flashcards
1
Q
Ras-opathies
A
Noonan, Costello, CFC, LEOPARD, NF1
2
Q
Overgrowth syndromes
A
Beckwith Weidemann, Sotos, Simpson Golabi Behmel, Proteus, bannayan-riley-ruvalcaba syndrome, Weaver,
3
Q
Chromosome breakage disorders
A
Ataxia-telangiectasia, Bloom, Nijmegen breakage syndrome, Fanconi anemia,
4
Q
Connective tissue disorders
A
Classic EDS, Hypermobile EDS, Vascular EDS, Marfan, Loeys-Dietz, OI, Stickler, Beals,
5
Q
Disorders of Sexual Development
A
XL Adrenal hypoplasia congenita, CAH, AIS, Kallman, Kleinfelter, Turner
6
Q
Hearing Loss
A
nonsyndromic, Jervell and Lange-Nielsen syndrome, Pendred syndrome, Usher syndrome, Waardenburg syndrome, Alport syndrome
7
Q
Vision Loss
A
LHON, Usher syndrome, Bardet-biedel
