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Flashcards in Inborn Errors Deck (18):
1

List the common features of: 

 

Down Syndrome (7)

Trisomy 21

 

Epicanthal folds of the eyes

Wide space/sandal gap between the first and second toe

Simian crease/single palmar crease

Tongue trusting

Thick nuchal fold

Congenital heart defects (75%)

Low tone

2

List the common features of: (5)

 

Trisomy 13 

Patau Syndrome

 

Holoprosencephaly

Microcephaly

Cleft lip +/- palate

Polydactylyl

Congenital heart defect

3

List the common features of: (5)

Trisomy 18

Edward Syndrome

 

Intrauterine Growth Retardation (IUGR)

Rocker bottome feet

Overlapping fingers

Malformed ears

Congenital heart defect

4

List the common features of: 

Cri du Chat Syndrome (5)

5p-

 

Microcephaly

growth deficiency

high pitched cat-cry

congenital heart disease

hypotonia

5

List the common features of: 

Prader Willi Syndrome

Paternal deletion 15q11

 

Obesity, food seeking

Hypotonia

Small hands and feet

Up slanting palpebral fissures

Infants with failure to thrive

6

List the common features of: (7)

Angelman Syndrome

Maternal deletion 15q11

 

Severe postnatal growth deficiency

Mental retardation 

"puppet-like gait"

Paroxysms of inappropriate laughter

Absent or limited speech

Seizures

7

List the common features of: (6)

22q11 Deletion Syndrome

voice-hyper nasal speech

cleft palate

congenital heart defect

hypocalcemia

immune defect due to a T-cell deficit

Developmental delay/mental retardation

8

List the common features of: 

William Syndrome (4)

7q23.2

 

Elfin Facies

Prominent lips

Wide spaced teeth 

supravalvular aortic stenosis

9

What are 2 triple repeat disorders?

Fragile X CGG > 200

Huntington's chorea CAG >40

10

List the common features of: 

Fragile X Syndrome (8)

Prominent or large ears

long face

high arched palate

hyper-extensible joints

subluxable thumbs

macro-orchidism (post-pubertal)

flat feet

soft-velvet like skin

11

Mendelian Inherited Disorders

List the common features of:

 

Duchene's Muscular Dystrophy (5)

X-linked recessive

 

calf hypertrophy

toe walking

progressive weakness

dilated cardiomyopathy

gowers sign (difficult rises from the floor)

 

12

Mendelian Inherited Disorders

List the common features of: 

Neurofibromatosis

Autosomal Dominant

2 of the following features:

>6 cafe au lait spots

2 or more neurofibromas

Lisch nodules

Optic gliomas

Angiofirbomas

Axillary or inguinal freckling

13

Mendelian Inherited Disorders

List the common features of:

 

Osteogenesis Imperfecta

Autosomal Dominant

 

Bones fracture easily

Near normal stature

Blue sclera

Hearing loss in 20's 30's

Most fractures occur before pubery

14

Lysosomal Storage Diseases

List the common features of:

 

Gaucher Disease (6)

Autosomal Recessive

1/500 in Ashkenazi Jewish Pop

GLucocerebrosidase Deficiency

Hepatosplenomegaly

Anemia

Bone Pain

15

Mendelian Inherited Disorders

List the common features of:

 

Fraby's Disease (7)

X-linked Recessive

alpha-galactosidase A

Renal Failure

Strokes

Myocardial Ischemia

Whorl Keratopthy (eyes)

Angiokeratoma

16

Mendelian Inherited Disorders

List the common features of:

 

Hurler Syndrome (8)

Autsomal Recessive

Alpha-a-Iduronidase deficiency

Coarse facial features (upturned nose, thick lips, hirsitism)

Gibbus deformity

Joint contractures

Progressive mental retardation 

Cardiac valvular disease

Corneal clouding

17

Mendelian Inherited Disorders

List the common features of:

 

Hunter Syndrome (4)

X-linked

Iduronidate sulfatase

No corneal clouding

coarse facial features

18

Mendelian Inherited Disorders

List the common features of:

Autosomal Recessive

Enzyme- Acid Alpha Glucosidase

 

Infantile:

Cardiomyopathy, failure to thrive, early death

Adult:

Muscle weakness, respiratory insufficiency