Genetic Syndromes

Question 1

Most common genetic disorder

Answer 1

Down Syndrome

Question 2

Maternal factors

Answer 2

Intrauterine infections (STORCH), alcohol-related birth defects, Fetal alcohol syndrome

Question 3

Fetal factors

Answer 3

Birth defects, inborn errors of metabolism, chromosomal abnormalities, CHARGE syndrome

Question 4

Tay-Sachs

Answer 4

Almost exclusively from people of Jewish heritage

Progressive disorder, results in early death

Question 5

Mucopolysaccharidosis

Answer 5

Error in gene code for enzyme that affects multiple body systems

Question 6

Mucopolysaccharidosis 1

Answer 6

Hurler syndrome:
Build-up of abnormal proteins in body; worsens with age
Gibbus = thoracolumbar kyphosis (hallmark feature)

Question 7

Mucopolysaccharidosis 2

Answer 7

Hunter syndrome:

Less intense version of hurler syndrome

Question 8

Sanfillipo syndrome

Answer 8

Difficulty with metabolism; bony protrusions and deformities

Question 9

Krabbe disease

Answer 9

Hypertonicity, contractures; intractable seizures that further developmental delay; brain atrophy –> eventual death

Question 10

Lesch-Nyan disease

Answer 10

Born normally but with gross motor delay. Hallmark feature is self-mutilation; psychological problem but one that’s based physiologically

Question 11

PKU

Answer 11

Tremors, seizures, and always involves MR

Question 12

Cytomegalovirus

Answer 12

CP, microcephaly, seizure disorders

Litter boxes not being changed can breed this virus

Question 13

Fetal alcohol syndrome

Answer 13

Most common fetal disorder; Can be prevented

Question 14

Fragile X

Answer 14

Congenital hip dislocation, mild MR

Question 15

Prader-Willi syndrome

Answer 15

Chromosome 15 inherited from father. Hyperphasia > eats a ton and gets obese

Question 16

Angelmen syndrome

Answer 16

Chromosome 15 inherited from mother. Mild MR, high steppage gait during ambulation

Question 17

Rett syndrome

Answer 17

Child develops normally until 6 y/o where they plateau. Rapid motor and language regression. Stereotypic hand-wringing and teeth grinding. Also apraxia and seizures

Question 18

Williams sydrome

Answer 18

Elfin facial features. Slow and abnormal growth. Hypotonic and grow into normal tone

Question 19

Genetic inheritance patterns

Answer 19

Autosomal, dominant, recessive, x-linked

Question 20

Autosomal inheritance

Answer 20

Only need to have gene from one parent to inherit disease

Question 21

Recessive inheritance

Answer 21

Need 2 copies of genes (one from each parent) to inherit disease

Question 22

Dominant inheritance

Answer 22

One gene from one parent needed to inherit disease

Question 23

X-linked

Answer 23

Involve the X chromosome, if it’s inherited as damaged or altered

Question 24

Down Syndrome

Answer 24

“Trisome 21”

When person has 3 instead of 2 copies of the 21st chromosome

Question 25

Down syndrome symptoms

Answer 25

AAI, cognitive delay, hypotonia, small stature, single deep crease on the palm of each hand, gross motor development delays, poor language development

Question 26

Dysmorphology

Answer 26

Malformation Dysplasia Deformation Syndrome

Question 27

Malformation

Answer 27

Structural defect in organ or body part (cleft lip)

Question 28

Dysplasia

Answer 28

Abnormal organization of cells in tissue (limb defect)

Question 29

Deformation

Answer 29

Alteration in form or shape of normal body part (plagiocephaly)

Question 30

Syndrome

Answer 30

Pattern of multiple malformations due to a single cause (Down Syndrome)

Question 31

Lissencephaly

Answer 31

Absence of cerebral sulci

Question 32

MELAS

Answer 32

``` Progressive neurodegenerative disorder Mitochondrial Encephalomyopathy Lactic Acidosis Stroke-like symptoms ```