Dysmorphic Disorders

Question 1

Midface hypoplasia, poor head growth, small, thin upper lip.

Poor judgement, inappropriate social interaction, lack of stranger danger

Answer 1

Fetal Alcohol Syndrome

Question 2

Short stature, primary amenorrhea, epicanthal folds, webbed neck, short 4th metacarpal
Partial or complete X chromosome missing

Answer 2

Turner

Question 3

Flat occiput, epicentral folds, large tongue, hypotonia

Answer 3

Down (trisomy 21)

Question 4

Tall, long limbs, gynecomastia, sparse body hair

XXY

Answer 4

Kleinfelter

Question 5

Most common cause of cognitive disability in boys

Oblong faces with large ears, large testicles ,

Answer 5

Fragile X syndrome

Question 6

Fawn’s hair, neuro impairment, meningocele

Answer 6

Spina bifida