Genetic Syndrome Images

Question 1

What syndrome is this?

Answer 1

Williams Syndrome

• puffy eyes
• flat midface
• epicanthal folds

Question 2

What syndrome does this child have?

Answer 2

Down Syndrome or Trisomy 21

• epicanthal folds
• upslanting palpebral fissures
• flat nasal bridge
• small ears

Question 3

What syndrome does this child have?

Answer 3

Trisomy 13 or Patau

Question 4

What syndrome is this finding associated with?

Answer 4

Trisomy 18

Rocker bottom feet

Question 5

What syndrome does this child have?

Answer 5

Turner Syndrome

Question 6

What syndrome does this child have?

Answer 6

DiGeorge Syndrome

Question 7

What syndrome does this child have?

Answer 7

Wolf-Hirschorn Syndrome

Question 8

What syndrome does this child have?

Answer 8

Wolf-Hirschorn Syndrome

Question 9

What syndrome is this finding associated with?

Answer 9

WAGR

Aniridia

Question 10

What syndrome does this child have?

Answer 10

Miller-Dieker Syndrome

Question 11

What syndrome does this child have?

Answer 11

Smith-Magenis Syndrome

Question 12

What syndrome does this child have?

Answer 12

Prader-Willi Syndrome

Question 13

What syndrome does this child have?

Answer 13

Smith-Magenis Syndrome

Question 14

What syndrome does this child have?

Answer 14

Angelman Syndrome

Question 15

What syndrome does this child have?

Answer 15

Beckwith-Wiedemann Syndrome

Question 16

What syndrome does this child have?

Answer 16

Fragile X syndrome

Question 17

What syndrome is this finding associated with?

Answer 17

Neurofibromatosis Type 1

Cafe-au-lait spot

Question 18

What syndrome is this finding associated with?

Answer 18

Neurofibromatosis Type 1

Neurofibromas

Question 19

What syndrome if this clinical finding associated with?

Answer 19

Tuberous Sclerosis

Ash leaf spots

Question 20

What syndrome is this clinical finding associated with?

Answer 20

Tuberous Sclerosis

Shagreen patch

Question 21

What syndrome is this clinical finding associated with?

Answer 21

Tuberous Sclerosis

Angiofibromas

Question 22

What syndrome does this child have?

Answer 22

Treacher Collins syndrome

Question 23

What syndrome does this child have?

Answer 23

Marfan Syndrome

Question 24

What syndrome does this patient have?

Answer 24

Cornelia de Lange Syndrome

Question 25

What syndrome is this clinical finding associated with?

Answer 25

CHARGE Syndrome

Coloboma

Question 26

What syndrome does this child have?

Answer 26

CHARGE

Question 27

What syndrome does this child have?

Answer 27

Achondroplasia

Question 28

What syndrome is this clinical finding associated with?

Answer 28

Osteogenesis Imperfecta

Blue sclera

Question 29

What syndrome does this child have?

Answer 29

Noonan Syndrome

Question 30

What syndrome does this child have?

Answer 30

Noonan Syndrome

Question 31

What syndrome does this child have?

Answer 31

Goldenhar Syndrome

Question 32

What syndrome does this child have?

Answer 32

Smith-Lemli Opitz Syndrome

Question 33

What syndrome does this child have?

Answer 33

Sotos Syndrome

Question 34

What syndrome does this child have?

Answer 34

Sotos Syndrome

Question 35

What syndrome does this child have?

Answer 35

Stickler Syndrome

Question 36

What syndrome does this child have?

Answer 36

Sturge-Weber Syndrome

Question 37

What syndrome does this child have?

Answer 37

Waardenburg syndrome

Question 38

What syndrome is this finding associated with?

Answer 38

Waardenburg syndrome

Heterochromia irides

Question 39

What syndrome does this child have?

Answer 39

Russell-Silver Syndrome