Syndromes Flashcards
Apert
Gene : FGFR2
Inheritance : AD
Features :
Crouzon
Gene : FGFR2
Inheritance : AD
Features :
Pfieffer
Gene : FGFR2(95%), FGFR1 (5%)
Inheritance : AD
Features :
Saethre-Chotzen
Gene : TWIST-1
Inheritance : AD
Features :
Carpenter
Gene : RAB23
Inheritance : AR
Features :
Muenke
Gene : FGFR3
Inheritance : AD
Features :
Hemifacial Microsomia
Gene : -
Inheritance : sporadic
Features :
Goldenhaar
Gene : -
Inheritance : -
Features :
Treacher Collins
Gene : TCOF1
Inheritance : AD
Features :
Nager
Gene : -
Inheritance : AD
Binder
Gene : -
Inheritance : AR
Features :
Mobius
Gene : -
Inheritance : AD, AR, Sporadic
Features :
Romberg
Gene : -
Inheritance : sporadic
Features :
Fibrous Dysplasia
Gene : IL-6 mutation
Inheritance : sporadic
Features :
Cherubism
Gene : SH3BP2
Inheritance : AD, sporadic