Diseases

Question 1

Webbed neck
Gonadal dysgenesis (sterility)
Short stature
Lymphedema of hands

Answer 1

Turner’s Syndrome (XO)

Question 2

Clenched hands
Rocker-bottom feet
swallowing defects

Answer 2

Trisomy 18 (Edwards)

Question 3

Achondroplasia

Answer 3

FGFR3 gain of function

Question 4

Aniridia (no irises)

Answer 4

Pax6

Question 5

Pancreatic Agenesis/Hypoplasia

Answer 5

NEUROD1

Question 6

Lissencephaly

Answer 6

Doublecortin

Question 7

IUGR
Premature delivery
ADD (?)

Answer 7

Nicotine

Question 8

Long philtrum, small eyes, smooth upper lip
CHD
growth deficiencies
Behavioral/neurocognitive defects

Answer 8

Fetal Alcohol Syndrome

Question 9

Yellow/brown teeth

Decreased bone growth

Answer 9

Tetracycline

Question 10

IUGR
Microcephaly
Distal phalangeal hypoplasia
Facial features (FAS-like)

Answer 10

Fetal Hydantoin Syndrome (anti-epileptic medication)

Question 11

Neural tube defects
Pinhead
Craniofacial deformities (cleft palate)
Thymic aplasia

Answer 11

Retinoic Acid

Question 12

Limb abnormalities
Ear abnormalities
Cardiac abnormalities

Answer 12

Thalidomide Syndrome

Question 13

CHD
Cataracts/Deafness
Blueberry Muffin Rash

Answer 13

Rubella (part. in first 6 weeks)

Question 14

Spontaneous termination in first trimester
IUGR
Micromelia
Chorioretinitis, blindness
Microcephaly
Hepatosplenomegaly

Answer 14

CMV

Question 15

Chorioretinitis
Intracranial calcifications
Hydrocephalus

Answer 15

Taxoplasmosis

Question 16

Low birth weight
CHD
Mental retardation

Answer 16

Mother has uncontrolled PKU

Question 17

Big baby who then experiences hypoglycemia
Jaundice
CHD
Renal, GI, CNS malformations

Answer 17

Mother has diabetes (preexisting or gestational)

Question 18

Simian Crease
characteristic facies
syndactyly
mental retardation
heart disease

Answer 18

Trisomy 21 (Down’s Syndrome)

Question 19

No EDA

Answer 19

Ectodermal dyslasias (hair, tooth, nail defects)

No EDA means no Wnt10b

Question 20

Notch mutation

Answer 20

Squamous Cell Carcinoma

Question 21

PTC1 mutation

Answer 21

Basal cell carcinoma

PTC1 mutation, means that SMO is always on (independent of SHH) and constant cell proliferation

Question 22

Enteric ganglia destruction
Megacolon
Dilated cardiomyopathy

Answer 22

Chagas

Question 23

Terminal colon aganglionosis

Megacolon

Answer 23

Hirschsprung’s disease

Caused by loss of function RET mutation and failed NC migration

Question 24

Open vertebrae w/out spinal cord protrusion

Answer 24

Spina bifida occulta

Question 25

Meninges protruding

Answer 25

Meningocele

Question 26

Meninges and spinal cord protruding

Paraylsis

Answer 26

Myelomeningocele

Question 27

Spinal cord exposed

Paralysis

Answer 27

Myeloschisis

Question 28

Open skull w/out brain protrusion

Answer 28

Cranium bifidum occultum

Question 29

Brain protruding

Answer 29

Enecphalocele

Question 30

No telencephalon

Answer 30

Anencephaly

Question 31

How can tube formation diseases be prevented?

Answer 31

Provide woman with Folic Acid (Vitamin B) pre-pregnancy; Folic acid promotes tube closure

Question 32

Wrist and forelimb malformations

Answer 32

Holt-Oram (Tbx5 mutation)

Question 33

Limb, hair, tooth, and genital problems

Answer 33

Ulnar-Mammary (Tbx3 mutation)

Question 34

Nail dysplasia
Absent or hypoplastic patella
Nephropathy
Ocular malformation

Answer 34

Nail-patella syndrome (Lmx-1 mutation)

Question 35

Acheiropodia

Answer 35

Shh limb enhancer deletion

Question 36

Mandible reduction
Tongue stays elevated, but palates don’t elevate
Cleft palate
Failure to thrive

Answer 36

Pierre Robin Sequence

Question 37

Failure of neural crest

Answer 37

Teacher Collins Syndrome
Treacle gene (TCOF1) mutation