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Genetics Flashcards

1
Q

Holoprosencephalopathy, agensis of corpus callosum, polycystic kidneys, cardiac defects, limb abnormalities and aplasia cutis congenita

A

Trisomy 13

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2
Q

IUGR, low birth weight, clenched fists, rocker bottom feet, abnormal head shape

A

Trisomy 18

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3
Q

Long narrow face, prominent jaw, protuberant ears, ADHD/autism, macro-orchidism, recurrent AOM

A

Fragile X Syndrome

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4
Q

wide-set eyes, upturned nose, large maxilla, prominent philtrum, pointed chin

A

Williams Syndrome

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5
Q

wide spaced eyes, low set ears, shied like chest, pectus deformity and increased carrying angle of arms

A

Noonan Syndrome

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6
Q

What should you suspect in a patient with NF1 and precocious puberty?

A

Optic pathway glioma

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7
Q

Short stature, frontal bossing, triangular faces, shortend and incurved 5th fingers (clinodactyly), asymmetry and cafe au lait spots

A

Russel-Silver syndrome

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8
Q

Cholestasis, cardiac anomalies, butterfly vertebrae, broad nasal bridge, triangular facies and deep set eyes

A

Alagille syndrome

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9
Q

Unilateral or bilateral upper extremity defects with septal defects

A

Holt-Oram syndrome (heart-hand)

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10
Q

Fused cervical vertebrae - short neck, low hairline. Hearing difficulties, eye abnormalities, cleft palate, cardiac or GU anomalies

A

Klippel-Feil syndrome

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11
Q

Arched eyebrows, long eyelashes, long opening of eyelids, flat broadened tip of nose, long protruding earlobes. Prominent fetal finger pads

A

Kabuki syndrome

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12
Q

Microcephaly, intellectual disability and multiple internal organ malformations. Syndactyly of second and third toes, hypotonia and feeding difficulties

A

Smith-Lemli-Opitz

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13
Q

Wilms tumor, aniridia, GU anomalies, intellecutal delay

A

WAGR

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14
Q

Hypopigmented lesions (ash-leaf macules), seziures, developmental delay, adenoma sebaceum, periungal fibromas, and shagreen patches

A

Tuberous sclerosis

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15
Q

Tall stature, pectus excavatum, lens dislocation WITH developmental delay

A

Untreated homocysteinuria

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16
Q

Cleft lip/palate, external ear abnormalities leading to conductive hearing loss, malar hypoplasia, colobomata, lack of eyelashes

A

Treacher-Collins

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17
Q

Loss of gene activity on maternally acquired chromosome 15

A

angelMan syndrome

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18
Q

Loss of genea ctivity on paternally acquired chromsome 15

A

Prader wili

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19
Q

Likely in utero environment of an infant with poor tone, poor suck and weakness

A

Polhydraminos - unable to swallow the amniotic fluid in utero

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20
Q

Generalized hirsuitism, long curly eyelashes, depressed nasal bridge, thin philtrum with downward turned upper lip, micrognathia, limb contractures, digit anomalies, hypoplastic genitlas

A

Cornelia-de-lange

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21
Q

Cardiac rhabdomyomas are most likely to be symptomatic in first 6 years of life when they could obstruct blood flow before they spontaneously regress (typically by 6 years old). They are associated with what syndrome?

A

Tuberous sclerosis

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22
Q

Irritability, fever, anorexia, soft tissue swelling associated with subperiosteal cortical thickening of underlying bone. Leukocytosis, ESR and elevated alk phos present. Present prior to 6 months of age

A

Caffey disease

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23
Q

Micrognathia, glossoptosis, upper airway obstruction

A

Pierre-Robin Sequence

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24
Q

Things associated with Pierre-Robin sequence

A

Strickler syndrome, 22q11

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25
Severe respiratory distress from pulmonary hypoplasia, narrow dysplastic thorax and extremity short ribs. May have natal teeth
Ellis-van Creveld syndrome
26
Small, hypoplastic mandible, micropthalmia, cataracts and neonatal teeth
Hallerman-Streiff syndrome
27
Posterior fossa malformations, hemangiomas, arterial anomalies, cardiac anomalies, eye abnormalities and sternal clefting/supraumbilical abdominal raphe
PHACES
28
Telangictasisas, photosensitivity, severe chelitis, growth deficiency, increased susceptibility to neoplasms, long face, long limbs
Bloom syndrome
29
Recurrent infections of mucous membranes, respiratory tract, and skin, oculocutaneous albinism, ataxia. Large granules in neutrophils.
Cheidiak-Higashi
30
Elevated leucine, isoleucine and valine in plasma and urine
Maple Syrup Urine disease
31
Treatment for homocysteinuria
pyridoxine, folic acid and vitamin B12
32
Lipid storage disease with splenomegaly, hepatomegaly, skeletal abnormalities, anemia and thrombocytopenia
Gaucher disease
33
Exaggerated startle at birth with loss of motor skills, axial hypotonia, extremity hypertonia and hyperreflexia
Tay-Sachs
34
vomiting, diarrhea, failure to thrive, hepatosplenomegaly, hypotonia, loss of motor skills (around 6 months)
Niemann-Pick
35
Erlenmyer flask on x-ray
Gaucher
36
Developmental delays, intellectural disability, dystonic movemetns, hypotonia, hyperreflexia and self-mutilation
Lesch-Nyhan syndrome
37
Absence of hypoxanthine guanine phosphoribosyltransferase leading to excessive levels of uric acid in blood and urine
Lesch-Nyhan syndrome
38
Hypoglycmeia, lactic acidosis and hyperlipidemia
glycogen storage disease type 1
39
Liver dysfunction, jaundice, hepatomegaly, cataracts, urinary ketones and reducing substance often presents early in life
Galactosemia
40
Light pigmented skin, eczema, blonde hair, blue eyes, if untreated will be significantly developmentally delayed
Phenylketonuria
41
Cystathione Beta synthase deficiency
homocystinuria
42
branched chain ketoacid dehydrogenase complex deficiency
maple syrup urine disaease
43
Treatment for glycogen storage disease type 1
noctunal NG infusion of glucose until 2-3 years of age with frequent daytime feeding. Raw constrach in water when older
44
short stature, multiple skeletal deformities, joint stiffness, thickened skin, hypertelorism, and coarce facial features
Hunter syndrome
45
Deficiency of lysosomal enzymes responsible for degradation of mucopolysaccharides or GAGs
mucopolysaccharidosis
46
Deficiency of 7 dehydrocholesterol reductase
Smith-Lemli-Opitz syndrome
47
Microcephaly with narrow bifrontal diameter, broad nasal tip with anteverted nares, hypertelorism and ptosis, cleft palate and micrognathia and low set ears
Smith-Lemli-Opitz syndrome
48
Elevated very long chain fatty acids
Zellweger syndrome
49
heaptic and renal dysfucntion with large anterior fontanelle, high forehaed, cataracts, broad nasal bridge and epiphyseal stippling
Zellweger syndrome
50
Full cheeks with sagging jowls and lips. little hair pigment. Collagen abnormalities. Impaired copper uptake
Menkes disease
51
Infant who was normal at birth who develops marked hypotonia, hepatomegaly and cardiomegaly early in life
Pompe disease (glycogen storage disease type 2)
52
Deficient activity of alpha glucosidase
Pompe disease
53
Deficit in glucose-6-phosphatase
Von Gierke (type 1 glycogen storage disease)
54
presents with severe hypoglycemia around 3-4 months
Von Gierke
55
Normal at birth and then within first 2 years develop coarsened facial features, large tongue, macrocephaly, corneal clouding and thickened heart valves
Hurler syndrome
56
Macrocephaly at birth, normal development until first febrile illness --> hypotonia and dystonia
Glutaric acidemia
57
Head imaging demonstrates frontal and cortical atrophy with increased extraaxial space. Will develop degeneration of caudate nucleus and putamen
Glutaric acidemia
58
Hypoketotic hypoglycemia when a kid placed under metabolic stress during first 3 years of life
Medium chain acyl CoA dehydrogenase
59
Diagnostic test for fatty acid oxidation disorder
Plasma acylcarnitines
60
Failure to thrive, hepatic dysfunction, renal dysfunction without hypoglycemia, x-ray findings of rickets
Tyrosinemia type 1
61
Succinylacetone in urine
Tyrosinemia type 1
62
Academic difficulty, impulsivity, gait abnormalities, slurred speech, hyperpigmentation on physical exam
adrenoleukodystrophy
63
By 5 days of age - poor feeding, lethargy, respiratory alkalosis, hyperammonemia and hypotonia
Urea cycle disorder
64
Differentiation between ornithine transcarbamylase deficiency and carbamoyl phosphate synthetase deficiency?
check urine orotic acid. Will be low or normal in CPS and high in OTC
65
Rapid growth in early childhood without an endocrine explanation. Continues until 4-5 years of age and then return to normal growth pattern and reach typical adult heights. Have large hands, feet, foreheads and intellectual disability
Sotos syndrome
66
Bilateral premature closure of coronal sutures with midface hypoplasia, proptosis, and normal intelligence, normal hands and feet
Crouzon syndrome
67
Premature closure of multiple sutures with syndactyly, "mitten hand" and intellectual disability
Apert syndrome
68
Fusion of mulitple sutures (commonly lamboid and sagittal), syndactyly, intellectual disability, CHD, corneal opacities
Carpenter syndrome
69
Rake an object without grasping it
6 months
70
Scissor grasp - grab object between thumb and side of curved index finger
8 months
71
Early pincer grasp with distal thumb joint slightly flexed
10 months
72
Fine pincer grasp with index finger and thumb joints flexed
12 months
73
Cardiac differences between noonan and turners
Noonans - ASD and pulmonic stenosis | Turners - aortic
74
hearing loss, iris heterochromasia, white forelock, premature graying, cutaneous depigmentation
Waardenburg syndrome
75
Crowe sign
axillary freckling
76
Absent/underdeveloped uterus and vagina, but normal developing external genitalia and ovaries. So still have pubic hair and breast development, but often diagnosed when no mensturation
Mullerian Aplasia/MRKH Syndrome

Peds (17 decks)

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