Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

[Pediatric Board Review] > Syndromes > Flashcards

Syndromes Flashcards

1
Q

AV Canal Defect

A

Trisomy 21

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Bicuspid Ao Valve or Aortic Coarctation

A

Turner Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

TOF or Truncus Arteriosus

A

DiGeorge Syndrome (22q11del)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Supravalvular Ao Stenosis

A

William’s Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Dilated Aortic Root or Mitral Valve Prolapse

A

Marfan’s Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Limb/thumb Anomalies, ASD +/- VSD

A

Holt-Oram

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Muscle weakness, ataxia, cardiomyopathy

A

Friedrich’s Ataxia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Pulmonic stenosis, webbed neck, short stature

A

Noonan Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q
  • Severe mucocutaneous bleeding in 1st 3 years of life
  • Normal PT/PTT, delayed bleeding time
  • Normal platelet # and morphology
A

Glanzmann’s Thrombasthenia:

  • AR
  • GIIb/IIIa deficiency
  • Rx: platelet transfusion
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q
  • Severe mucocutaneous bleeding in 1st 3 years of life

- Giant platelets +/- thrombocytopenia

A

Bernard-Soulier Syndrome:

  • AR
  • GP1b, V, IX defect - can’t bind vWF
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q
  • Thrombocytopenia

- Absent radius

A

TAR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

This inheritance typically involves genes encoding structural proteins, transcription factors, plus others

A

AD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q
  • White forelock
  • SNHL
  • Abn pigmentation
    _ Hand anomalies
A

Waardenberg Syndrome

  • Type 3 - + Hirschsprung disease
  • Genes: PAX3, MITF, EDN3, EDNRB, SOX10
  • AD
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q
  • Abnormal upper to lower body ratio
  • Tall stature
  • Pectus deformity
  • Scoliosis
  • Arachnodactyly
  • High arched palate
A

MARFAN SYNDROME

  • Ocular - lens dislocation, myopia
  • Cardiac - aortic root dilation, risk of Ao rupture, mitral valve prolapse
  • Spinal dural ectasia
  • Gene: Fibrillin on chromosome 15
  • Marfan 2 and Loeys-Dietz syndrome have mutations in gene for TGF beta receptors 1 and 2
  • AD
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q
  • > 6 cafe-au-lait spots (>5mm pre-pubertal, >15mm post-pubertal)
  • 2 + neurofibromas
  • 2+ Lisch nodules
  • Inguinal or axillary freckling
  • Optic pathway tumor
  • Osseous lesion: sphenoid wing dysplasia or thinning of long bone cortex
  • 1st degree relative with NF
  • Diagnosis by 2 or more of the above findings
A

NEUROFIBROMATOSIS

- AD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

This inheritance typically involves genes encoding enzymes

A

AR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q
  • 1:12000 newborns
  • Persistent elevation in phe levels
  • mutation in phenylalanine hydroxylase gene
A

PHENYLKETONURIA

- AR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q
  • Lysosomal storage disease (mucopolysaccaridosis)
  • Coarse facies
  • Corneal clouding
  • Organomegaly
  • Cognitive loss
  • Mutation in alpha-1 iduronidase gene
A

HURLER SYNDROME

- AR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q
  • Progressive symmetric myopathy
  • Proximal weakness>distall weakness
  • Calf hypertrophy
  • Gower manuever
  • Symptoms prior to 5 years of age
  • Unable to walk by age 13
  • Carrier females may develop cardiomyopathy
A

DUCHENNE MUSCULAR DYSTROPHY

  • X-linked recessive
  • Dystrophin gene on Xp, 65% deletions, 30% point mutations
  • CK 10x normal
  • Muscle biopsy - fiber size variation, necrosis, minimal or absent dystrophin staining
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q
  • Lysosomal storage disease
  • Coarse facies
  • Hump on back
  • Short stature
  • Gibbus
  • Cognitive loss (variable)
  • Organomegaly
  • Clear cornea
A

HUNTER SYNDROME

- X-linked recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q
  • Progressive neurological disorder in girls
  • Hand wringing, breath holding
  • Seizures
  • Males may not survive pregnancy or be very severely affected
  • Atypical Rett Syndrome may present as autism
A

RETT SYNDROME

  • X-linked dominant
  • Gene: MECP2 at Xq28
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q
  • Lactic acidosis
  • Mutation in gene encoding tRNAs
  • Myopathy with ragged red fibers
  • Dilated or hypertrophic cardiomyopathy
A

MITOCHONDRIAL MYOPATHY AND CARDIOMYOPATHY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q
  • Lactic acidosis
  • Early onset strokes
  • Myopathy
  • Mutation in tRNA genes in mitochondrial genome
A

MITOCHONDRIAL ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE (MELAS)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Inheritance of cleft lip and palate

A

Complex inheritance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Inheritance of neural tube defects

A

Complex inheritance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q
  • 1:5000 live births
  • Short stature
  • Infertility +/- ammenorrhea
  • Coarctation
  • Kidney malformations
  • Hand and foot edema
  • Neck webbing
  • Wide carrying angle
  • Low hair line
  • Wide spaced nipples
A

TURNER SYNDROME

  • X0
  • Referral for genetic testing is important to check for presence of Y chromosomal material that increases the risk of gonadal malignancy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q
  • Severe retardation
  • Cleft lip and palate
  • FTT
  • CHD
  • Microcephaly
  • Flat nasal bridge with high arched eyebrows
A

WOLF-HIRSCHHORN SYNDROME

- deletion 4p

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q
  • Cat cry
  • LBW
  • ID
  • Microcephaly
  • Epicanthal folds
  • CHD
A

CRI-DU-CHAT

- deletion 5p

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q
  • Developmental delay
  • Dysmorphism - stellate iris, thick lips, puffy eyes, bitemporal narrowing, elfin facies
  • “cocktail party” personality
  • HYPERCALCEMIA
  • supravalvular aortic stenosis
A

WILLIAMS SYNDROME

- deletion on chromosome 7q11.23

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q 
C = cardiac
A = abnormal face
T = thymus hypoplasia/T cell deficiencies
C = cleft palate
H = hypocalcemia
22 = 22q deletion
A

DIGEORGE SYNDROME

- aka Velocardiofacial Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

A male infant has TOF and a cleft palate. What would be the best genetic test to order?

A

FISH for 22q11

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q
  • ID
  • Microcephaly
  • Hirsuitism
  • Synophrys
  • Oligodactyly
  • GERD**
A

CORNELIA DE LANGE SYNDROME

  • NIPBL mutation
  • Chromosome 5p13
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q
  • Down slanting palpebral fissures
  • Malar hypoplasia
  • Lower eyelid coloboma
  • Malformed ears with hearing loss
A

TREACHER COLLINS SYNDROME

  • mutation in treacle at 5q32
  • AD
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Most common form of ID in boys

A

Fragile X

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q
  • ID (IQ 30-50)
  • Language delay
  • Motor delay
  • Autistic behaviors
  • Difficulty with transitions
  • Anxiety
  • Tantrums
  • Hyperactivity
  • Long face, prominent ears, flat feet, loose joints, soft/smooth skin
  • Mitral valve prolapse
  • Strabismus
  • Large testes after puberty
A

FRAGILE X SYNDROME

- CGG repeat in FRM1 gene (>200 repeats)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q
  • Neonatal hypotonia, poor feeding
  • Developmental delay
  • Almond shaped eyes
  • Small hands and feet
  • Obesity and feeding problems
  • Hypogonadotrophic hypogonadism
  • DM
A

PRADER-WILLI SYNDROME

  • 1/10,000 to 1/25,000
  • 70% deletion on chromosome 15q (paternal)
  • 28% maternal uniparental disomy for chromosome 15
  • 2% mutation in imprinting gene
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q
  • Severe ID
  • Laughter outbursts
  • Ataxia
  • Large jaw
A

ANGELMAN SYNDROME

  • 70% maternal deletion chromosome 15
  • 3-5% parental uniparental disomy
  • 8% imprinting mutation
  • 8% mutation in UBE3A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Most common CHD in children with Down Syndrome

A

AV canal is the most common (40-50%)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q
  • Microcephaly
  • Growth retardation
  • Long smooth philtrum
  • Thin upper lip
  • Down-slanting palpebral fissures
  • Hirsuitism
  • Cardiac defects
  • Developmental delay
A

FETAL ALCOHOL SYNDROME

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q
  • FTT
  • Microcephaly
  • Ptosis
  • Cataract
  • Small jaw
  • Cleft palate
  • Abn genitals/male pseudohermaphroditism
  • CHD
  • Severe hypotonia
A

SMITH-LEMLI-OPTIZ

  • Metabolic disorder with dysmorphism
  • Mutations in delta-7-sterol reductase
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

Conotruncal Heart Defect (transposition, TOF, Interrupted aortic arch, Truncus arteriosus)

A

FISH for 22q11 deletion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

Supravalvular Aortic Stenosis

A

Williams Syndrome

43
Q

AV canal defect

A

Down Syndrome

44
Q
  • Growth deficiency
  • Microcephaly
  • Prominent occiput
  • Small mouth/small jaw
  • Short sternum
  • Cardiac anomalies
  • Cryptorchidism
  • Overlapped clenched fingers/hypoplastic nails
  • Rocker bottom feet
A

TRISOMY 18

  • 1:8000 live births
  • Decreased survival but reports into second decade
45
Q
  • LBW
  • Microcephaly
  • Holoprosencephaly
  • Scalp ulceration
  • Iris coloboma
  • Cardiac anomalies
  • Renal and genital anomalies
  • Cleft lip and palate
  • Polydactyly
  • Rocker bottom feet
A

TRISOMY 13

  • 1:25,000
  • Reports of living into second decade
46
Q
  • Crumpled broad long bones
  • Wormian bones
  • Narrow chest
  • Blue sclera
A

OSTEOGENESIS IMPERFECTA TYPE 2

  • mutations in COL1A1 and COL1A2
  • death due to inability to ventilate, intracranial hemorrhage
47
Q
  • Most common neonatal skeletal dysplasia
  • Some forms with cloverleaf skull
  • Short limb dwarfism
  • Severe brain malformations
A

THALANOPHORIC DYSPLASIA

- mutations in FGFR3

48
Q
  • Short stature
  • Rhizomelia
  • Vertebral body abnormality
  • Trident hand
  • Small foramen magnum
A

ACHONDROPLASIA

  • AD
  • Mutation in FGFR3
  • Increased risk for SIDs
49
Q

Metabolic syndrome that looks like Marfan’s Syndrome

A

Homocystinuria

50
Q

Syndromes with craniosynostosis

A
  • Apert syndrome
  • Cruzon syndrome
  • Pfeiffer syndrome
  • Jackson-Weiss
  • Saethre-Chotzen
51
Q
  • Large size
  • Neonatal hypoglycemia
  • Macroglossia
  • Umbilical hernia
  • Ear lobe grooves
A

BECKWITH-WIEDEMANN SYNDROME

- 7.5% lifetime risk of tumors - Wilms, Adrenal Cortical Carcinoma, Hepatoblastoma

52
Q
  • Aniridia
  • ID
  • Wilms TUmor
  • Gonadoblastoma
A

ANIRIDIA-WAGR SYNDROME

- deletion chromosome 11p13

53
Q
  • Enlargement of one side of the body

- Tumors (Wilms, adrenal cortical carcinoma, hepatoblastoma)

A

HEMIHYPERPLASIA

54
Q
  • Hyperextensibility
  • Atrophic scars
  • Delayed walking
  • Spontaneous gut rupture
  • Aneurysm
  • Wound dehicience
A

EHLERS DANLOS SYNDROME

55
Q

Radial Ray Anomalies

A
  • TAR
  • Diamond Blackfan Anemia
  • Fanconi ANemia
  • Holt-Oram Syndrome
  • VATER/VACTERL
56
Q
  • Delayed closure of fontanelle
  • Skeletal dysplasia
  • Absent clavicles
A

CLEIDOCRANIAL DYSOSTOSIS

57
Q

Clues to Acute Metabolic Disease

A
  1. BP easily maintained
  2. Acidosis unresponsive to usual means of respiratory and circulatory support. Ketoacidosis rare in neonate except with metabolic disease
  3. Sterile cultures
58
Q

Association of E. coli sepsis with this metabolic disease

A

Galactossemia

59
Q

Seizures

  1. Early in life
  2. Myoclonus
  3. Hiccupping
  4. Hypsarrhythmia by EEG
A 
Early metabolic etiology
Nonketotic hyperglycemia (Born seizing) or beta-alaninemia when these findings are observed together
60
Q

Urine smells like maple syrup, sweet burnt sugar, curry

A

Maple syrup urine disease (MSUD)

61
Q

Smells moussey, musty

A

Phenylketonuria

62
Q

Smells like sweaty feet

A

Isovaleric acidemia

Glutaric acidemia, Type II

63
Q

Smells like cat urine

A

3-Methylcrotonyl-glycinuria

64
Q

Smells musty

A

Tyrosinemia

65
Q

Smells fruity, sweet

A

DM

66
Q

Sparse, pili torti or kinky, steely hair

A

Menkes Syndrome

67
Q

Dry, breakable short hair

A

Argininosuccinic aciduria

68
Q

Alopecia

A

Biotinidase deficiency
Combined carboxylase deficiency
Acrodermatitis enteropathica

69
Q

Ambiguous genitalia

A

CAH

70
Q

Hair and/or skin problems

A

Biotinidase deficiency
Multiple carboxylase deficiency
Arginino-succinic aciduria

71
Q

FAS-like facies

Structural brain abnormalities (agenesis of corpus callosum, cortical cysts)

A

Pyruvate dehydrogenase deficiency

72
Q

Macrocephaly

A

Glutaric Aciduria Type I

73
Q

Renal cysts, facial dysmorphism

A

Zellweger Syndrome

Glutaric Aciduria Type II

74
Q

Cataracts

A

Galactosemia (ecoli sepsis)

Lowe Syndrome

75
Q

Lens dislocation

Ectopic Lentis

A

Homocystinuria-down (kidneys low = down)

Marfan syndrome-up (tall = up)

76
Q
  • Neutropenia

- Metabolic acidemia

A

Organic acidemias

77
Q
  • Neutropenia
  • Hepatomegaly
  • Hypoglycemia
  • Bleeding diathesis
A

Glycogen storage disease, Type 1B

78
Q
  • Neutropenia
  • Apneic/bradycardic episodes
  • +/- Seizure
A

Nonketotic hyperglycemia

79
Q

Cofactors - Neonatal seizures

A

Pyridoxine (B6)

80
Q

Cofactors - Biotinidase deficiency (alopecia)

A

Biotin

81
Q

What is the mode of inheritance of most metabolic disorders

A

AR - 25% recurrence risk

82
Q

1/760 Mennonite population

  1. NEONATAL: poor feeding, apnea, ketoacidosis, seizures, hypoglycemia
  2. Infants/Adults: ataxia, FTT, +/- acidosis, progressive
  3. Childhood/adulthood: Intermittent ataxia, ketoacidosis during infection or protein rich meals
  4. Infant/adult: milder, ataxic attacks to psychomotor delay (thiamine responsive)
A

MSUD
- Defect in the branched chain alpha-ketoacid dehydrogenase enzyme
- ELEVATED LEUCINE, ISOLEUCINE, and VALINE ALLOISOLEUCINE is pathognomonic
- THIAMINE = Cofactor
Rx: Restriction of branched chain AA, thiamine

83
Q

Present in neonatal period with ELEVATED AMMONIA and CATASTROPHIC ILLNESS

A

Urea Cycle Defects

AR except for OTC deficiency which is X-linked

84
Q

This urea cycle defect presents with ataxia, not elevated ammonia

A

Arginase deficiency

85
Q

Rx for urea cycle disorders

A
  • Low protein diet
  • Urea cycle intermediate when appropriate
  • Medications to remove toxic ammonia via alternative pathways (phenylacetate, phenylbutyrate, benzoate)
  • Outcome: virtually all ID
86
Q

Present in neonatal period with NEONATAL CRASH, KETOACIDOSIS, HYPOGLYCEMIA, HYPERAMMONEMIA, NEUTROPENIA

A

Organic Acidemias

  • Propionic acidemia - defect in propionyl CoA carboxylase; biotin cofactor; Rx - diet, biotin, carnitine
  • Methylmalonic acidemia - defect in methylmalonyl CoA mutase; Rx - diet, B12, carnitine
  • Biotin disorders - defect in addition of biotin to 4 apocarboxylases or in biotin recycling; biotin currative
87
Q 
Hypoglycemia
Reye like illness
SIDs
4-24mos of age
Hypoketotic hypoglycemia
A

Medium Chain Acyl CoA Dehydrogenase Deficiency

Rx - low fat diet; avoid fasting; carnitine; glucose during intercurrent illnesses

88
Q
  1. Prenatal/neonatal onset of intractable seizures, HICCUPS
  2. Due to disorder in glycine cleavage enzyme
  3. Elevated glycine in serum and/or CSF amino acids
A

Nonketotic hyperglycinemia

89
Q
  • Abnormal hair and facies
  • Hypopigmentation
  • Arterial tortuosity/rupture and thrombosis
  • Intractable seizures with progressive CNS deterioration
  • Hypothermia
  • Osteoporosis
  • Low serum Copper
A

Menkes Disease

- X-linked P-type ATPase cation transporter

90
Q
  • Dislocated lenses (down)
  • Marfanoid habitus
  • ID
A

Homocystinuria

  • Dx: plasma homocystine levels
  • Cystathionine B-synthase deficiency - AR
  • 50% pyridoxine responsive
91
Q
  • Liver failure
  • Renal tubular dysfunction
  • Cabbage-like odor
  • French Canadians
A

Tyrosinemia Type 1

  • AR
  • Rx: dietary restriction, liver transplantation; NTBC
92
Q
  • Corneal dystrophy
  • Erosions/keratosis of palms and soles
  • ID
A

Tyrosinemia Type 2

  • AR
  • Succinylacetone
  • Rx: low phe, low tyr diet curative
93
Q

Effects of maternal PKU

A
  • Teratogenic effects
  • Miscarriage
  • Microcephaly
  • ID (>90%)
  • IUGR (40%)
  • Cleft palate
  • Dysmorphic facies

PREVENTED BY INSTITUTION OF DIET PRIOR TO CONCEPTION

94
Q
  • Hepatomegaly
  • Hypoglycemia
  • Cherubic or doll-like facies
  • Growth impairment
A

Hepatic Glycogen Storage Diseases

Rx:

  • Cornstarch
  • Nocturnal enteral feeding
95
Q
  • GSD
  • Nephromegaly
  • Kidney disease
  • Lactic acidemia
  • Hyperuricemia - allopurinol
  • Hypertriglyceridemia
A

Glucose 6-phosphatase deficiency

von Gierke disease

96
Q
  • GSD
  • Mucosal ulcerations
  • Neutropenia
  • Neutrophil dysfunction
A

T1 ER glucose 6-phosphate transporter deficiency

97
Q
  • GSD
  • skeletal and/or cardiomyopathy, progressive
  • Hyperlipidemia
  • Elevated transaminases
A

Debrancher enzyme deficiency

Cori or Forbes disease

98
Q
  • GSD
  • Severe FTT
  • Progressive cirrhosis
  • Hypoglycemia
A

Branching enzyme deficiency (Amylopectinosis)

Andersen disease

99
Q
  • Massive cardiomegaly
  • Macroglossia
  • Hepatomegaly
  • Progressive muscle weakness
  • Hypotonia
A

alpha-GLucosidase deficiency

Pompe disease

100
Q
  • Muscle pain
  • Exercise intolerance
  • Progressive weakness
  • Rhabdomyolysis and myoglobinuria
  • No increase in blood lactate with exercise
A

Muscle phosphorylase deficiency

McArdle disease

101
Q
  • Hypoglycemia
  • Hyperventilation
  • Ketoacidosis
  • Lactic acidemia
  • Irritability, somnolence, coma and apnea
  • Moderate hepatomegaly
  • Fruit juice introduces
A

Fructose 1,6-Bisphosphatase Deficiency

102
Q
  • Choreoathetosis
  • Compulsive self-mutilation and ID
  • Hyperuricemia leads to gouty arthritis in adulthood
A

Lesch-Nyan Syndrome (Hypoxanthine guanine phosphoribosyltransferase deficiency)

X-LINKED RECESSIVE

103
Q
  • Normal development until 4-5months
  • Cherry red macula
  • Myoclonic seizures
  • Hyperacusis
  • Motor weakness
  • Progressive spasticity
  • Hyperreflexia, blindness, deafness
  • Macrocephaly
A

GM2 Gangliosidosis - Tay Sachs and Sandhoff

104
Q
  • Most common lysosomal storage disorder
  • Defect of beta-glucosidase
  • HSM
  • Pancytopenia, bone pain
  • Hydrops fetalis, neurological involvement
  • Rapid deterioration and death
A

Gaucher disease

[Pediatric Board Review] (17 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions