Syndromes

Question 1

Apert

Answer 1

Gene : FGFR2
Inheritance : AD
Features :

Question 2

Crouzon

Answer 2

Gene : FGFR2
Inheritance : AD
Features :

Question 3

Pfieffer

Answer 3

Gene : FGFR2(95%), FGFR1 (5%)
Inheritance : AD
Features :

Question 4

Saethre-Chotzen

Answer 4

Gene : TWIST-1
Inheritance : AD
Features :

Question 5

Carpenter

Answer 5

Gene : RAB23
Inheritance : AR
Features :

Question 6

Muenke

Answer 6

Gene : FGFR3
Inheritance : AD
Features :

Question 7

Hemifacial Microsomia

Answer 7

Gene : -
Inheritance : sporadic
Features :

Question 8

Goldenhaar

Answer 8

Gene : -
Inheritance : -
Features :

Question 9

Treacher Collins

Answer 9

Gene : TCOF1
Inheritance : AD
Features :

Question 10

Nager

Answer 10

Gene : -
Inheritance : AD

Question 11

Binder

Answer 11

Gene : -
Inheritance : AR
Features :

Question 12

Mobius

Answer 12

Gene : -
Inheritance : AD, AR, Sporadic
Features :

Question 13

Romberg

Answer 13

Gene : -
Inheritance : sporadic
Features :

Question 14

Fibrous Dysplasia

Answer 14

Gene : IL-6 mutation
Inheritance : sporadic
Features :

Question 15

Cherubism

Answer 15

Gene : SH3BP2
Inheritance : AD, sporadic

Question 16

Klippel-Feil

Answer 16