Birth defects (EFF)

Question 1

**syndrome of multiple congenital abnormalities w/ a distinctive facial appearance. Have microcephaly, short stature, confluent eyebrow, micrognathia, micromelia, oliigodacytyly and relative smallness of hands. Pllus are a retard (Hangover reference)

Answer 1

Cornelia de Lange

Question 2

**Bones and tissue in the face is affected. Underdeveloped facial bones, micrognathia, downward slanting eyes, sparse eyelashes, coloboma (JOSH), absent or small ears, normal intelligence

Answer 2

Treacher collins

Question 3

**autosomal dominant, defect in TCOR1 gene

Answer 3

treacher collins

Question 4

**inability to sweat (heat tolerance), large forehead, abnormal nails and teeth, absent or decreased tears, poor hearing.

Answer 4

Ectodermal dysplasia

Question 5

**Hypopigmentation of the skin. prolonged bleeding time, easy bruisability, recurrent infections, peripheral neuropathy

Answer 5

Chediak-Higashi Syndrome

Question 6

**Melanosomes stick together causing this syndrome

Answer 6

Chediak-Higashi Syndrome

Question 7

**dry, flaky, thick skin w. varying degrees of severity

Answer 7

Ichthyosis

Question 8

**varying degrees of fusion btw the bones of lower extremity

Answer 8

Sirenomelia

Question 9

**Caused by anything that causes oligohydramnios, especially juvenile polycystic kidney dz or renal agenesis

Answer 9

Potter’s

Question 10

**flattened nose, recessed chin, prominent epicanthal folds. See pulmonary hypoplasia, features of prune-belly syndrome

Answer 10

Potter’s

Question 11

**More then 6 ash leave spots means what most likely

Answer 11

Tuberous sclerosis

Question 12

**Autosomal dominant. Affects cellular differentiation and proliferation, which results in hamartoma formation in many organs

Answer 12

Tuberous sclerosis

Question 13

**Blister formation in response to minor trauma, skin falls off if you touch them.

Answer 13

Epidermolysis Bullosa

Question 14

**Absence of desmosomes can cause the skin problem that cant handle trauma to the skin at all

Answer 14

Epidermolysis bullosa

Question 15

**Triad of port wine stains, varicose veins, and bony and soft tissue hypertrophy of an extremity

Answer 15

Kippel-Trenanay-Weber syndrome

Question 16

nerve deafness and retinitis pigmentosa. His friend had this

Answer 16

Usher’s syndrome

Question 17

atrophy of the anterior horn cells can cause what problem in neonates

Answer 17

Werdnig-Hoffman

Question 18

Lymph vessels not forming properly

Answer 18

Milroy’s disease

Question 19

Cleft scrotom, happy face, retinitis, extra finger

Answer 19

Laurence-Moon-Biedl-Bardot

Question 20

what are some ribosomopathy

Answer 20

treacher collins, cartilage-Hair hypoplasia dwarf

Question 21

Person stops making RBCs

Answer 21

blackfan diamond

Question 22

what trisomy do we see cyclops

Answer 22

Trisomy 13 (Pateau’s)

Question 23

Ectopia lentis

Answer 23

marfans

Question 24

eyes are way far apart

Answer 24

robinow syndrome

Question 25

No osteoblast. optic nerves will be impinged on

Answer 25

osteopetrosis

Question 26

Tetragon that causes the kid to end up w/ short fingers and short fignernails

Answer 26

Phenytoin

Question 27

Ribs dont develop. Lungs have no place to develop

Answer 27

Thanatophoric dwarfism

Question 28

what does leopard syndrome stand for

Answer 28

Lentigos, Ekg abnormalitis, Ocular hypotelorism, Pulmonary stenosis, Abnormal genitals, Retarded growth, Deafness

Question 29

enchondromas, usually on one side of the body

Answer 29

Ollier’s