Path Spring Ii

Front 1

Marfan syndrome

Back 1

FIBN-1 gene - fibrillin (scaffold for elastin deposition)

Hint 1

- Tall stature, arachnodactyly, ligamentous laxity, scoliosis, pectus deformities, dolichocephaly, prominent supraorbital ridges, high arched palate
- weak suspensory ligaments leads to dislocation of lens, myopia, retinal detachment
- aortic dissection, mitral/aortic valve incompetence

Front 2

Elhers Danlos Syndrome

Back 2

Multiple genes - generalized defects in collagen

Hint 2

-Skin fragility/hyperextensibility, hypermobile joints/ligaments, weak blood vessels w/purpura
- Type V collagen affected in type 1&2 - skin/joint hypermobility, easy bruising
- Type III collagen in vascular type - rupture of colon, large arteries, uterus, shortened life expectancy

Front 3

Tay-Sachs

Back 3

Hexosaminidase - GM2 ganglioside

Hint 3

Progressive neurodegeneration
Developmental delay
Death in 2-3years
Cherry-red spot on macula
Lysosomes w/onion skin

Front 4

Niemann-Pick A

Back 4

Sphingomyelinase - sphingomyelin

Hint 4

Hepatosplenomegaly
Lymphadenopathy, fever
Cherry red spot on macula
Foam cells
Severe neurologic deterioration

Front 5

Niemann-Pick B

Back 5

Same as type A, less severe

Front 6

Niemann-Pick C

Back 6

Defect in cholesterol trafficking - cholesterol accumulation

Hint 6

Stillbirth, hydrops fetalis, neonatal hepatitis
Hepatosplenomegaly

Front 7

Gaucher disease

Back 7

glucocerebrosidase - glucocerebroside

Hint 7

Replacement of bone marrow with Gaucher cells
Bone erosions, Erlenmyer flask deformity
Pancytopenia
Splenomegaly

Front 8

Fabry’s Disease

Back 8

a-galactosidase A - ceramide trihexose (globosides)
X-linked recessive

Hint 8

Microvascular disease
Peripheral neuropathy
Cardiovascular/renal disease
Angiokeratomas

Front 9

Hurler syndrome

Back 9

a-L-iduronidase - dermatan sulfate, heparan sulfate

Hint 9

“Gargoylism”
Skeletal deformities
Growth retardation
Kyphoscolisosis,
Lumbar gibbus
Clouding of the cornea

Front 10

Scheie syndrome

Back 10

a-L-iduronidase (different then Hurlers)

Hint 10

Similar to Hunters, Intelligence and life expectancy are normal

Front 11

Hunter Syndrome

Back 11

L-iduronate sulfatase - heparan sulfate and dermatan sulfate
X-linked recessive

Hint 11

Mild form of Hurlers
No corneal clouding

Front 12

I-cell disease

Back 12

- Deficiency of phosphorylating enzymes essential to formation of mannose-6P recognition marker
Newly synthesized lysosomal enzymes secreted into ECM

Hint 12

Clinically similar to Hurler syndrome
Hydrops fetalis

Front 13

von Gierke disease (I)

Back 13

Glucose-6 phosphatase

Hint 13

Glycogen vacuoles in liver, hepatomegaly
Increased blood lactate
Hypoglycemia - stunted growth, convulsions
Hyperuricemia, Xanthomas, platelet dysfunction

Front 14

Pompe’s disease (II)

Back 14

a-1,4 glucosidase (acid maltase)

Hint 14

Storage in heart - Cardiomegaly
(Also in liver and skeletal muscle)

Front 15

Cori Disease (III)

Back 15

Debranching enzyme

Hint 15

Milder form of type I

Front 16

McArdle’s sydrome (IV)

Back 16

Muscle phosphorylase

Hint 16

Increased glycogen in muscle
Muscle weakeness, myoglobinuira
Increased ammonia from rhabdomyolysis

Front 17

Alkaptonuria (onchronosis)

Back 17

Homogentisic oxidase

Hint 17

Accumulation of homogentisic acid in collagen and cartilage
Blue-black pigmentation in ears, nose
Arthritis

Front 18

Neurofibromatosis I

Back 18

NF-I: neurofibromin (tumor suppressor)
Autosomal dominant
Chromosome 17
Variable expressivity

Hint 18

Neural tumor
Cafe-au-lait spots
Lisch nodules
Skeletal abnormalities - bone cysts, scoliosis, pseudoarthritis
Increased risk of pheochromocytoma, other tumors

Front 19

Neurofibromatosis II

Back 19

NF-2 gene on chromosome 22

Hint 19

Bilateral acoustic neuromas
Multiple schwannomas
Cafe-au-lait spots

Front 20

Down syndrome

Back 20

Trisomy 21
Maternal non-disjunction
Robertsonian translocation (14 or 22)
Mitotic non-disjunction

Hint 20

Mental retardation
Flat facies, epicanthal folds, brachiocephaly
Simian crease
Congenital heart disease - ASD
Intestinal stenosis
Kertatoconus and Brushfields spots
Abnormal Tcell response
Increased risk of ALL and Alzheimer's
Gap between 1&2 toes

Front 21

Edwards syndrome

Back 21

Trisomy 18
Mitotic nondisjunction

Hint 21

Severe mental retardation
Rocker bottom feet
Micrognathia
Low set ears
Overlapping fingers
Die within one year

Front 22

Down syndrome prenatal screening

Back 22

Decreased a-fetoprotein, estriol
Increased B-hcg, inhibin A

Front 23

Patau's syndrome

Back 23

Trisomy 13
Mitotic nondisjunction

Hint 23

Severe mental retardation
Microcephaly, micropthalmia
Cleft lip/palate
Polydactyly
Rocker bottom feet

Front 24

DiGeorge/Velocardial facial syndrome

Back 24

22q11 deletion

Hint 24

Congenital heart defects
Cleft lip, facial dysmorphism
Variable T cell immunity
Hypoparathyroidism

Front 25

Cri du Chat

Back 25

5p deletion

Hint 25

Kitten cry
Mental retardation
Microcephaly

Front 26

Klinefelter's syndrome

Back 26

47XXY

Hint 26

Eunuchoid body habitus
Gynecomastia
Long legs
Hypogonadism, oligospermia, small penis
No secondary sex characteristics
Lowed IQ

Front 27

Turner's sydrome

Back 27

XO

Hint 27

Short stature
Webbed neck - cystic hygroma
Peripheral lymphedma
Broad chest, wide carrying angle
Coarctation of the aorta
Streak ovaries, primary ammenorrhea

Front 28

Female pseudohermaphrodite

Back 28

XX - excess androgen leads to virilization, 21-hydroxylase deficiency

Front 29

Male pseudohermaphrodite

Back 29

XY - androgen insensitivity

Front 30

Fragile X syndrome

Back 30

CCG repeats in FMR-1 gene

Hint 30

Mental retardation
Long face, large jaw & ears
Macro-orchidism
Mitral valve prolapse
Autism

Front 31

Prader-willi syndrome

Back 31

Deletion on chromsome 15 from father

Hint 31

Mental retardation
Short stature
Obesity, hyperphagia
Hypogonadism

Front 32

Angelman syndrome

Back 32

Deletion on chromsome 15 from mother

Hint 32

"Happy puppet"
Mental retardation
Ataxia
Inappropriate laughing