Inborn Errors Flashcards by M C | Brainscape

Q

List the common features of:

Down Syndrome (7)

A

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

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Q

List the common features of: (5)

Trisomy 13

A

Patau Syndrome

Holoprosencephaly

Microcephaly

Cleft lip +/- palate

Polydactylyl

Congenital heart defect

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Q

List the common features of: (5)

Trisomy 18

A

Edward Syndrome

Intrauterine Growth Retardation (IUGR)

Rocker bottome feet

Overlapping fingers

Malformed ears

Congenital heart defect

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Q

List the common features of:

Cri du Chat Syndrome (5)

A

5p-

Microcephaly

growth deficiency

high pitched cat-cry

congenital heart disease

hypotonia

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Q

List the common features of:

Prader Willi Syndrome

A

Paternal deletion 15q11

Obesity, food seeking

Hypotonia

Small hands and feet

Up slanting palpebral fissures

Infants with failure to thrive

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Q

List the common features of: (7)

Angelman Syndrome

A

Maternal deletion 15q11

Severe postnatal growth deficiency

Mental retardation

“puppet-like gait”

Paroxysms of inappropriate laughter

Absent or limited speech

Seizures

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Q

List the common features of: (6)

22q11 Deletion Syndrome

A

voice-hyper nasal speech

cleft palate

congenital heart defect

hypocalcemia

immune defect due to a T-cell deficit

Developmental delay/mental retardation

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Q

List the common features of:

William Syndrome (4)

A

7q23.2

Elfin Facies

Prominent lips

Wide spaced teeth

supravalvular aortic stenosis

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Q

What are 2 triple repeat disorders?

A

Fragile X CGG > 200

Huntington’s chorea CAG >40

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Q

List the common features of:

Fragile X Syndrome (8)

A

Prominent or large ears

long face

high arched palate

hyper-extensible joints

subluxable thumbs

macro-orchidism (post-pubertal)

flat feet

soft-velvet like skin

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Q

Mendelian Inherited Disorders

List the common features of:

Duchene’s Muscular Dystrophy (5)

A

X-linked recessive

calf hypertrophy

toe walking

progressive weakness

dilated cardiomyopathy

gowers sign (difficult rises from the floor)

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Q

Mendelian Inherited Disorders

List the common features of:

Neurofibromatosis

A

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

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Q

Mendelian Inherited Disorders

List the common features of:

Osteogenesis Imperfecta

A

Autosomal Dominant

Bones fracture easily

Near normal stature

Blue sclera

Hearing loss in 20’s 30’s

Most fractures occur before pubery

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Q

Lysosomal Storage Diseases

List the common features of:

Gaucher Disease (6)

A

Autosomal Recessive

1/500 in Ashkenazi Jewish Pop

GLucocerebrosidase Deficiency

Hepatosplenomegaly

Anemia

Bone Pain

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Q

Mendelian Inherited Disorders

List the common features of:

Fraby’s Disease (7)

A

X-linked Recessive

alpha-galactosidase A

Renal Failure

Strokes

Myocardial Ischemia

Whorl Keratopthy (eyes)

Angiokeratoma

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Q

Mendelian Inherited Disorders

List the common features of:

Hurler Syndrome (8)

A

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

Q

Mendelian Inherited Disorders

List the common features of:

Hunter Syndrome (4)

A

X-linked

Iduronidate sulfatase

No corneal clouding

coarse facial features

Q

Mendelian Inherited Disorders

List the common features of:

A

Autosomal Recessive

Enzyme- Acid Alpha Glucosidase

Infantile:

Cardiomyopathy, failure to thrive, early death

Adult:

Muscle weakness, respiratory insufficiency