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Peds PM&R > Genetic Disorders > Flashcards

Genetic Disorders Flashcards

1
Q

Cause of Cystic Fibrosis

A

Defect in Cystic fibrosis transmembrane conductance regulator (CFTR) protein

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2
Q

Inheritance of Cystic Fibrosis

A

Autosomal recessive

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3
Q

Defective CFTR protein results in ___

A

ABN Chloride secretion and l/t production of thick mucus

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4
Q

Pulmonary Infections in Cystic Fibrosis

A

Psedumonas aeruginosa

Staph aureus

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5
Q

Complications of thick mucus in Cystic Fibrosis

A 
Bronchiectasis
Malnutrition
Pancreatic insufficiency
Diabetes mellitus 
CF-related liver dz
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6
Q

Testing in Cystic Fibrosis

A

Sweat chloride

Genetic analysis of CFTR gene

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7
Q

Tx of Colonized P. aerugnosa

A

Oral azithromycin

Inhaled tobramycin

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8
Q

Down Syndrome

A

MC pattern of human malformation and cause of intellectually disability

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9
Q

Etiology of Down Syndrome

A

Complete Trisomy 21 (95%)
Mosaic trisomy 21 (2.5%)
Robertsonian translocation, 21 to 14 (2.5%)

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10
Q

Facial Features in Down Syndrome

A 
Flattened nasal bridge
Low set ears
Prominent epicanthal folds
Brushfield spots (small spots on periphery of iris)
Slanted palpebral fissures
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11
Q

Clinical Features in Down Syndrome

A 
Global dev delay
Cognitive impairment
Hypotonia
50% congenital heart defects
Hypothyroidism
Hypogonadism
Atlantoaxial instability
Hip dysplasia
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12
Q

Clinical Features of Fetal Alcohol Syndrome

A

Microcephaly
Thin vermillion border of upper lip
Smooth philtrum
Short palpebral features

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13
Q

Floppy Baby Syndrome

A

Infant with low resistance to passive movement
Marked head lag
Floppy trunk, arms and legs
Delay in achieving gross motor milestones

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14
Q

Fragile X Syndrome

A

MC form of inherited intellectual disability
MCC of autism
X-linked dominant
>200 CGC repeats

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15
Q

Friedreich’s Ataxia

A

Progressive neuromuscular d/o

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16
Q

Inheritance of Friedreich’s Ataxia

A

Autosomal recessive
Repeating fataxin gene on Chr 9
GAA repeats

17
Q

Absent Frataxin gene causes ___

A

Free iron accumulates in mitochondria producing oxidative stress that causes cell damage

18
Q

Friedreich’s Ataxia CF

A 
Progressive ataxia
Sensory impairment
Loss of flexibility
Scoliosis
Hypertrophic cardiomyopathy
WC 5-15 years after onset
Dysarthria (ballistic pattern)
Dysphagia 
Diabetes
19
Q

EMG findings in Freidreich’s Ataxia

A

Absent sensory nerve action potentials (or of reduced amp)

20
Q

Hemophilia

A

Heritable d/o of blood coagulation caused by absence of key proteins required for clotting cascade

21
Q

Hemophilia inheritance

A

X-linked recessive A and B types

22
Q

Deficiency in Hemophilia

A

Factor VIII or IX

23
Q

Tx of Hemophilia

A

DDAVP (vasopressin) inc circulating levels of factor VII

Replacement of clotting factor

24
Q

Klippel-Feil Syndrome

A

Heterogenous collection of CF all unified by the presence of congenital synostosis of some or all cervical vertebrae

25
Q

Triad of Klippel-Feil Syndrome

A

Short neck
Low hairline
Limited cervical mobility in 50%

26
Q

Metachromatic Leukodystrophy

A

AR Lysosomal storage dz d/o with ABN myelin sheath

27
Q

Cause of Metachromatic Leukodystrophy

A

Deficiency of enzyme arylsulfatase A

28
Q

Mucopolysaccharidose Type 4

A

AR d/o d/t absence of/malfunction of lysosomal enzymes that breakdown glycosaminoglycan GAG

29
Q

Mucopolysaccharidose Type 4 CF

A

Skeletal changes
Intellectual disabilities
Involvement of viscera

30
Q

Neurofibromatosis

A

Common genetic d/o primary of peripheral nervous system that can cause neuro, behavior, cognitive, cardiovascular and MSK disabiliies

31
Q

Neurofibromatosis Inheritance

A

Autosomal dominant

NFI or NFII gene

32
Q

Neurofibromatosis CF

A 
Limited ROM related to underlying plexiform NF
Weakness, proximal
Scoliosis
Leg length discrepancy
Pheochromocytoma possible
33
Q

Neurofibromatosis NIH criteria for DX

A

Two or more of the following

  • 6 or > café au lait spots
  • Axillary or inguinal fold freckling
  • One or more plexifom NF or 2 or > of any kind of NF
  • 2 or > Lishc nodules on slit lamp exam
  • Distinctive-related osseous lesion
  • 1st degree relative who meets above criteria
34
Q

Prader Willi syndrome

A

Multigenic d/o w/ hypotonia, obesity, resp difficulties and intellectual impairments

35
Q

Prader Willi syndrome inheitance

A

Loss of function of paternal gene group on Chr 1q11.2q13

36
Q

Prade Willi CF

A 
Neonatal hypotonia, poor feeding, FTT
Hyperphagia/obesity 
Hypogonadism and infertility
Unusual nasal voice
Skin picking
Trichotillomania
Low IQ
37
Q

Achondroplasia

A

MC form of dwarfism resulting in characteristically large head w/ frontal bossing and long narrow trunk w/ short limbs

38
Q

Achondroplasia inheritance

A

Autosomal dominant

Fibroblast growth factor receptor 3 gene (FGFR3)

Peds PM&R (15 decks)

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