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Pediatric Board Review > Genetic Syndromes > Flashcards

Genetic Syndromes Flashcards

1
Q

Test for Angelman

A

15q11 methylation study

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2
Q

Kallmann syndrome

A

hypogonadotropic hypogonadism

anosmia

clef lip/palate or color blindness

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3
Q

These syndromes are associated with Pierre Robin Sequence

A

Stickler syndrome

22q11 deletion syndromes

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4
Q

Immune deficiency with delayed eruption of primary teeth

A

Job syndrome. Recurrent skin abscesses, pneumatoceles, elevated IgE, coarse facies, eczema, delayed eruption of primary teeth.

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5
Q

Bilateral acoustic neuromas are seen in

A

Neurofibromatosis type 2

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6
Q

Erlenmeyer flask deformity of femur

A

Gaucher disease
AR, lipid storage disease (glucocerebroside)
seizures, splenomegaly, bleeding disorder, anemia
bone pain, osteopenia

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7
Q

Inheritance pattern of PKU

A

autosomal recessive

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8
Q

MELAS

A

mitochondrial disorder

Myoclonic epilepsy
Lactic acidosis
Stroke-like episodes

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9
Q

Immune deficiency with partial albinism

A

Chediak-Higashi syndrome: recurrent sinupulmonary infections, peripheral neuropathy, giant granules on peripheral smear, partial oculocutaneous albinism

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10
Q

Congenital neutropenia syndromes:

A 
Chediak-Higashi (albinism)
Dyskeratosis congenita 
Severe congenital neutropenia
Fanconi anemia
Schwachman-Diamond syndrome (pancreatic insufficiency)
Cartilage-hair hypoplasia
Barth syndrome (cardiomyopathy)
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11
Q

Ectopia lentis, thromboses, marfanoid habitus

A

Homocystinuria (elevated methionine)

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12
Q

11p15

A

Beckwith-Wiedemann: hemihypertrophy, macroglossia, macrosomia

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13
Q

Down-syndrome-like facies, large forehead,
hepatomegaly
profound hypotonia
liver dysfunction

A

Zellweger syndrome (peroxisomal disease)

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14
Q

Mutation in long arm of 17

A

NF1

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15
Q

Disorder of copper uptake

A

Menke’s. X-linked. Full cheeks, sagging jowls/lips. Sparse hair/eyebrows with little pigmentation. Neurologic degeneration. Subdural hematomas and retinal hemorrhages not associated with trauma.

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16
Q

Achondroplasia inheritance pattern

A

autosomal dominant
or de novo mutation

If 2 parents with achondroplasia have a child, risk of having a kid with achondroplasia is 2/3 because AA is lethal.

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17
Q

Duplicated distal thumb is seen in this syndrome

A

Schwachman-Diamond syndrome (neutropenia, exocrine pancreatic insufficiency, skeletal anomalies)

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18
Q

Congenital intestinal anomaly associated with T21

A

Duodenal atresia

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19
Q

Kids with Beckwith-Wiedemann are at risk of these tumos

A

Wilms tumor - screen with complete abd US q3 months until age 7-8 yrs
Hepatoblastoma- Screen with AFP q3 months until age 4
(embryonal solid tumors)

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20
Q

Genetics of Incontinentia pigmenti

A

X-linked dominant (lethal in males)
1. inflammatory vesicles/bullae trunk/ext
(neonate)
2. irregular linear verruclous lesions on ext/hands/feet
3. swirly brown/blue pigmentation fade by adolescence
4. streaks of atrophy and hypopigmentation

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21
Q

PHACE Syndrome

A
  1. Posterior fossa defects
  2. Hemangiomas
  3. Arterial anomalies (usually brain)
  4. Cardiovascular
  5. Eye anomalies
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22
Q

Alagille Syndrome

A

– jaundice; FEW bile ducts, no gallbladder
– butterfly vertebrae
– heart murmur (PPS)
– hypertelorism
CONJUGATED hyperbili

Dx with liver biopsy (paucity of bile ducts)

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23
Q

Most common fatty acid oxidation disorder

A

MCAD deficiency

Medium chain acyl-coenzyme A dehydrogenase

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24
Q

Symptoms of Freidrich Ataxia

A 
limb ataxia (childhood)
Areflexia
Weakness
Saccadic eye movements
Dysarthria
Dysphagia
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25
Q

What is Sprengel deformity?

A

elevation and rotation of the scapula

Associated with Klippel-Feil (fusion of cervical vertebrae)

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26
Q

Which metabolic disorder can cause retinal hemorrhages and subdural hematoma/be mistaken for child abuse?

A

Glutaric acidemia type 1 (AR)

can have macrocephaly, frontal and cortical atrophy, increased extra-axial space; dystonia and hypotonia when sick

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27
Q

Sturge-Weber

A

vascular malformation on face- port wine stain V1 distribution - esp upper lid(can also involve V2/V3). Present at birth- does not change.

  • seizures
  • glaucoma (early ophtho eval)
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28
Q

What is Stickler syndrome?

A

affects connective tissue

    • Pierre Robin Sequence
    • VISION ISSUES (myopia, cataracts, retinal detachment, vitreous anomalies)
    • hearing loss
    • articular (early OA, hypermobility)
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29
Q

Patients with either of these genetic disorders are at increased risk of spontaneous pneumothorax

A

Marfan syndrome
Ehlers Danlos

Connective tissue disorders

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30
Q

What is myotonic dystrophy?

A

– adolescent onset
– delayed relaxation of muscle after contraction
– limb/facial weakness
– drooping face
– tapping thenar eminence -> dimpling
– GI dysmotility
NORMAL CK

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31
Q

When does Rett syndrome start to really show?

A 
between age 1-4 
loss of purposeful hand skills--  repeated hand wringing
loss of language/social interaction
gaze aversion
Acquired microcephaly
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32
Q

Absence of radius
Dislocation of carpus
Rudimentary thumb

A

Holt-Oram syndrome

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33
Q

Syndrome with increased risk of hypercalcemia

A

Williams syndrome (friendly, abnormal facies, supravalvular aortic stenosis, stellate iris)

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34
Q

Leigh disease

A

mitochondrial disorder involving many complexes.

Necrotizing changes in BG and midbrain, hypotonia, FTT, loss of respiratory centers,

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35
Q

MCAD deficiency – labs

A

elevated C8 in plasma acylcarnitine profile
elevated urine acylglycines
hypoglycemia

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36
Q

This substance is elevated in the serum in Ataxia-Telangiectasia

A

Alpha fetoprotein

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37
Q

Genetic mutation associated with Rett syndrome

A

MECP2 mutation on X chromosome, usually spontaneous

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38
Q

Omphalocele commonly seen in which genetic sx

A

trisomy 13, Beckwith-Wiedemann, trisomy 18

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39
Q

What is the significance of transient myeloproliferative disorder in newborns with T21?

A

increased risk of leukemia later in life (10-30%)

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40
Q

What are early signs of Rett syndrome?

A

stage I - 6-18 months, very subtle

delays in gross motor, hypotonia, hand wringing

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41
Q

Inheritance pattern of myotonic dystrophy

A

Autosomal dominant

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42
Q

What is the defect in maple syrup urine disease?

A

catabolism of branched-chain amino acids (valine, leucine, isoleucine)

missing branched-crain keto acid decarboxylase enzyme

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43
Q

When does Friedrich ataxia present?

A

adolescence– progressive ataxia in all extremities, LE weakness, diminished DTRs

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44
Q

What is Klippel Trenaunay syndrome?

A

vascular disorder
port wine stains
overgrowth of bones and tissues
ONE LIMB

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45
Q

Fragile X

A

> 200 CGG repeats, loss of function of FMR1. X-linked autosomal dominant. Anticipation. Moderate ID in males. Females can have mild symptoms. dx - fragile X DNA molecular analysis

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46
Q

Lisch nodules

A

NF1.

Lisch nodules are hamartomas in the iris

47
Q

Tuberous Sclerosis

A 
-- seizures in 1st yr of life
(infantile spasms, partial, gen tonic-clonic)
-- cardiac rhabdomyomas
-- ash-leaf spots
-- facial angiofibromas
-- Shagreen patches (lumbosacral region)
-- periungual/ungual fibromas
-- intellectual disability
-- renal angiomyolipoma
48
Q

Kallmann syndrome

A
    • hypogonadotropic hypogonadism
    • decreased sense of smell
    • midfacial defects (cleft lip/palate)
    • renal agenesis
    • congenital heart disease
49
Q

Heart defect seen in Noonan Syndrome

A

pulmonary valve stenosis

50
Q

What is PTEN hamartoma tumor syndrome?

A

hemihyperplasia (overgrowth)
tumors
macrocephaly

Includes disorders like Cowden syndrome (increased breast/uterine cancer)

51
Q

TAR syndrome

A

Thrombocytopenia
Absent bilateral radii
Horseshoe kidney

can have congenital heart disease, micrognathia, kidney abnormalities

52
Q

Aside from cutaneous abnormalities, what are other findings in incontinentia pigmenti?

A 
delayed dentition
pegged/conical teeth
alopecia
nail changes
Seizures
53
Q

Tyrosinemia type 1

A

– RTA
– rickets
– FTT
– liver dysfunction, hepatomegaly
Diagnosis: Urine succinylacetone

54
Q

When does ataxia telangiectasia present?

A

symptoms start in toddlerhood– abnormal eye movements, ocular telangiectasias

55
Q

fused cervical vertebrae is seen in:

A

Klippel-Feil syndrome

56
Q

Holt-Oram Syndrome

A
    • ASD
    • heart block
    • absent radii
57
Q

TAR syndrome

A

Thrombocytopenia -Absent Radii

AR. Bilateral absent radii and can have hypoplasia of ulna/humeri/shoulder girdle.
Can also have heart defects. BM with absent or decreased megakaryocytes.
THUMBS ARE NORMAL

58
Q

Angelman Syndrome - genetics

A

Imprinting chromosome 15

59
Q

Symptoms of Angelman syndrome

A

Gait ataxia
Lack of expressive language
Microcephaly
Seizures

60
Q

Heart defect in Noonan Syndrome

A

pulmonic valve stenosis

61
Q

Ataxia-Telangiectasia

A

Ataxia
Telangiectasias
Recurrent infections
Elevated AFP

62
Q

Rocker bottom feet
microcephaly
cleft lip/palate
cutis aplasia

A

Trisomy 13 Patau

can also have neural tube defects, cardiac issues, omphalocele, polydactyly

63
Q

Lethargy during periods of fasting, and hypoglycemia are seen in this category of diseases.

A

Fatty Acid Oxidation disorders (e.g. MCAD deficiency)

64
Q

Kids with Apert syndrome may have this hand deformity

A 
mitten hand (fusion of middle fingers)
**a craniosynostosis syndrome also with brain malformations, low IQ
65
Q

Cystic fibrosis: sweat chloride levels are usually higher than

A

60 mEq/L

66
Q

Hepatomegaly, nephromegaly, hypoglycemia with chubby cheeks and thin extremities is a classic presentation for:

A

Glycogen storage disease type 1 (von Gierke)

*also have hyperuricemia, lactic acidosis, hyperlipidemia

67
Q

Smith-Magenis syndrome

A

moderate ID
Facial features: heavy brows, coarse features
Unusual behaviors – self-hugging, putting foreign objects into body, self-injurious behaviors
Circadian rhythm problems

68
Q

Coarse facial features, corneal clouding, umbilical hernia, dysostosis multiplex, HSM, frequent URIs….

A

MPS type 1- Hurler syndrome (do not have hypoglycemia). Neurodegenerative. lysosomal storage disease. AR. Coarse facial features start to show around 1 year of age

69
Q

Genetics of fragile X

A

trinucleotide repeat disorer
>200 CGG repeats on FMR1 gene
Can affect males and females

70
Q

Complications of Freidrich Ataxia

A

Cardiomyopathy
Diabetes mellitus
Bladder dysfunction
Progressive ataxia, weakness, dysphagia

71
Q

Upward lens subluxation is seen in

A

Marfan syndrome (autosomal dominant)

72
Q

Elevated very long chain fatty acids

A

Zellweger syndrome - AR - disorder of peroxisomal biogenesis. HEPATIC/RENAL dysfunction

  • large ant fontanelle
  • cataracts
  • epicanthal folds
  • broad nasal bridge
  • epiphyseal stippling
73
Q

Potter sequence

A 
flattened nose/micrognathia/low set ears
limb abnormalities
due to OLIGOHYDRAMNIOS
bilateral renal agenesis/cystic dysplasia
pulmonary hypoplasia
74
Q

How does Pompe disease present?

A

(glycogen storage disease)
Marked hypotonia and cardiomegaly in infancy (around 1 month– normal at birth). Short PR interval, massive QRS complexes. Normal glucose.

Alpha-glucosidase deficiency. Accumulation of glycogen in muscle, liver, heart, kidney, sm muscle, nerve

75
Q

Inheritance pattern of hypophosphatemic rickets?

A

X-linked DOMINANT
excess phosphate loss thru kidneys.
NORMAL PTH level

76
Q

Presentation of untreated galactosemia

A 
hepatomegaly, liver dysfunction
cataracts
MR
FTT
gram negative sepsis (e coli!)
77
Q

cause of death in Rett syndrome

A

cardiac arrhythmia/prolonged QTc

baseline may have autonomic dysfunction

78
Q

Buildup of glucocerebroside is seen in :

A

Gaucher disease
builds up in brain, liver, lungs, spleen
LIPID ENGORGED MACROPHAGES IN BONE MARROW - pancytopenia

79
Q

Individuals with Fanconi anemia have increased risk of developing this malignancy

A

AML (15% risk)

80
Q

Optic gliomas are seen in

A

NF1

81
Q

CHARGE syndrome

A 
Coloboma of retina
Heart
Atresia of choanae
Retarded growth and dev
Genital abnormalities (micropenis, cryptorchidism)
Ear abnormalities

Must have at least 4. CHD7 gene.

82
Q

Laurence-Moon-Biedl syndrome/Bardet-Biedl syndrome

A 
obesity
hypogonadism
retinitis pigmentosa
polydactyly
genital hypoplasia
intellectual disability
Autosomal recessive
83
Q

Imprinted (deleted/inactivated) maternal chromosome 15

A

Angelman syndome (flappy hands, happy puppet, seizure, flattened occiput, protruding tongue, developmental delay)

84
Q

Best test to confirm propionic acidemia

A

urine organic acids (elevated methylcitrate, triglyglycine, propionylglycine)
elevated 3-hydroxypropionate

85
Q

Cornelia de Lange syndrome

A 
IUGR, FTT
mod-severe ID
microcephaly, long eyelashes
hypoplastic LIMBS
bicornuate uterus/cryptorchidism
HIRSUTISM
86
Q

Features of fragile X

A 
Long face
Prominent jaw
Macro-orchidism
Gaze aversion, autistic behaviors, expressive language disorder, sensory sensitivity
hyperactivity, hand biting
Intellectual disability
87
Q

Genetics of Noonan Syndrome

A

autosomal dominant. Mutation on chromosome 12. Normal karyotype. Increased risk of bleeding diathesis, similar features to Turner syndrome

88
Q

What are the Ghent criteria?

A

clinical dx of Marfan ( need 2 of the major criteria)

  1. ectopia lentis
  2. aortic root dilation or dissection
  3. family history
89
Q

What category of diseases is diagnosed with an acylcarnitine profile?

A

Fatty Acid Oxidation disorders (e.g. MCAD deficiency)

90
Q

AR disorder of cholesterol metabolism

A 
Smith-Lemli-Opitz
Deficiency of dehydrocholesterol reductase. Defect in sonic hedgehog gene.
- increase in cholesterol
- microcephaly, narrow bifrontal diameter, wide eyes
- cleft palate, micrognathia
- 2/3 toe syndactyly
-CLENCHED HANDS
- hypospadias, ambig genitalia
91
Q

Treatment of MCAD deficiency (fatty acid oxidation disorder)

A

low-fat diet

lots of carbohydrates at bedtime to avoid hypoglycemia

92
Q

Presentation of MCAD deficiency

A

normal birth
present after 3 months with hypoketotic hypoglycemia, vomiting, lethargy
SEIZURES, HEPATOMEGALY, LIVER DYSFUNCTION
Avoid fasting!!
**FAMILY history of sudden death before age 2

93
Q

Supravalvular aortic stenosis is seen in

A

Williams syndrome
elastin gene on chrom 7q11
elfin facies, engaging personalities

94
Q

How does PKU present?

A

absence of Phe hydroxylase. Phe accumulated

    • MUSTY urine
    • seizure, delayed milestones
    • eczema
    • light skin, blond hair, blue eyes
95
Q

GAA repeats

A

Freidrich Ataxia
Chromosome 9 - frataxin gene
Autosomal RECESSIVE

96
Q

Differences between Marfan and Homocystinuria

A

Homocystinuria is AR has elevated METHIONINE, and at risk of vascular thrombi

97
Q

Menke’s disease

A

Failure to absorb copper in the gut –> copper deficiency –> mitochondrial impairment. X-linked (Males)
Presents in infancy: loss of milestones, seizures, MR, tortuous cerebral arteries, kinky hair, hypotonia. Low serum Cu and ceruloplasmin.

98
Q

What is the defect in Marfan syndrome?

A

Elastin fibers weakened due to abnromal synthesis of fibrillin protein

99
Q

musty urine

A

PKU

100
Q

What is elevated in maple syrup urine disease?

A

L-alloisoleucine
Trt: BCAA restriction (leucine, isoleucine, valine)

autosomal recessive

101
Q

Inheritance pattern of Gardner syndrome

A

autosomal dominant.

Pre-malignant intestinal polyps, extra teeth, osteomas. Trt = surgery

102
Q

Screening test for Lesch-Nyhan syndrome

A

Urinary Urate to Creatinine ratio (>2 is abnormal)

103
Q

heterochromia of the irises can be seen in:

A

Waardenburg syndrome (white forelock, hirschsprungs, hearing loss, light eyes)

104
Q

What are features of AR PKD (polycystic kidney disease)?

A

Presents in childhood
Chronic kidney disease
Hepatic fibrosis

105
Q

What is nail-patella syndrome?

A

Autosomal dominant.
Ortho (e.g. hypoplastic patellae, dislocations), dystrophic nails.
RENAL DISEASE (proteinuria, hematuria –> ESRD)
Sensorineural hearing loss

106
Q

Most common inheritance pattern in Alport syndrome

A

X-linked recessive, but can also be others

107
Q

Inheritance pattern of Wilson disease

A

Autosomal Recessive

108
Q

Osler-Weber-Rendu syndrome

A

Autosomal dominant
Telangiectasias
Vascular malformations
Epistaxis

109
Q

What is the mucopolysaccharidosis that is X-linked?

A

Hunter syndrome. Accumulation of GAGs.
MSK defects, short stature, coarse facial features, HSM, communicating hydrocephalus, thickened cardiac valve leaflets, prominent forehead, hypertelorism.

110
Q

What is the mucopolysaccharidosis that is X-linked?

A

Hunter syndrome

111
Q

tall stature, learning disabilities, lens subluxation

A

Homocystinuria

112
Q

Upper limb abnormalities + ASD/VSD + cardiac conduction defects seen in this syndrome

A

Holt-Oram syndrome
autosomal dominant

may see fused or missing digits,

113
Q

Symptoms of Friedrich Ataxia

A

AR. Ataxia, LE weakness, pes cavus, diminished DTRs, scoliosis, hypertrophic cardiomyopathy, dysarthria

Pediatric Board Review (3 decks)

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