Miller review- Genetic disorder rapid fire

Question 1

Talbe of pediatric congenitla disorders

Answer 1

Question 2

Achondroplasia

Answer 2

FGF3

Question 3

Hypochondroplasia

Answer 3

FGF3

Question 4

Thantophoric Dysplasia

Answer 4

FGFR3

Question 5

Pseudoachondroplasia

Answer 5

COMP

Question 6

MED type 1

Answer 6

COMP

Question 7

MED type type2

Answer 7

Collagen type 9

Question 8

SED

Answer 8

Collagen type II

Question 9

Kniest Syndrome

Answer 9

Collagen type Ii

Question 10

Stickler Syndrome

Answer 10

Collagen type Ii

Question 11

Diastrophic Dysplasia

Answer 11

Sulfate transporter Gene

Question 12

Schmid metaphyseal chondrodysplasia

Answer 12

Collagen type 10

Question 13

Jansen Metaphseal chondrodysplasia

Answer 13

PTHRP

Blood levels of parathyroid hormone (PTH) are undetectable, but the mutation in the PTH1R leads to auto-activation of the signaling as though the hormone PTH is present. Severe JMC produces a dwarfing phenotype, or short stature. Examination of the bone reveals normal epiphyseal plates but disorganized metaphyseal regions. Hypercalcemia (elevated levels of calcium in the blood) and hypophosphatemia (reduced blood levels of phosphate), and elevated urinary calcium and phosphate, are generally found in JMC. The absence of hypercalcemia does not eliminate the disease from consideration.

Question 14

Craniosynostosis/Apert

Answer 14

FGFr2

Question 15

Cleidocranial dysplasia

Answer 15

CBFA1 RUNX

Question 16

Hypophosphatemic Rickets

Answer 16

PEX

is an X-linked dominant form of rickets (or osteomalacia) that differs from most cases of rickets in that vitamin D supplementation does not cure it. It can cause bone deformity including short stature and genu varum (bow-leggedness). It is associated with a mutation in the PHEX gene sequence (Xp.22) and subsequent inactivity of the PHEX protein.

Question 17

Marfan Syndrome

Answer 17

Fibrillin-1

Question 18

Ethlers Danlos

Answer 18

collagen type 1

can also include collagen type 5 and 4

Question 19

Duchenne

Beckers

Answer 19

Dystrophin Gene

Question 20

Limb Girdle dystrophies

Answer 20

Sarcoglycan and dystroglycan complex

Question 21

CMT disease

Answer 21

PMP22

Question 22

Spinal muscular Atrophy

Answer 22

Survival motor neuron protein

Question 23

myotonic dystrophy

Answer 23

myotonin

Question 24

Fredrich Ataxia

Answer 24

frataxin

Question 25

Neurofibromatosis

Answer 25

Neurofibromin

Question 26

Mccune Albright sydrome

Answer 26

cAMP