Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Royal College > Genetics/Metabolics > Flashcards

Genetics/Metabolics Flashcards

(52 cards)

Start Studying
1
Q

Mnemonic for DiGeorge syndrome findings

A

CATCH-22
Conotruncal cardiac anomalies
Abnormal facies
Thymus hypoplasia
Cleft palate
Hypocalcemia
22q11.2 microdeletion

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

CHARGE syndrome

A

Coloboma of the eye
Heart defects
Atresia choanae
Retardation of growth and/or development
GU malformation
Ear abnormalities and/or deafness
Also called Hall-Hittner syndrome
Can also have palatal differences, facial palsy, developmental differences and immunodeficiency

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

How to tell between Turner and Noonan syndromes

A

Turner XO, Noonan not chromosomal
Turner only in females
Turner coarctation of aorta, infertility
Noonan pulmonary stenosis
Noonan ID, Turner normal
Realistically need genetic testing

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

Triad of Sturge Weber syndrome

A

Port wine stain
Glaucoma
Leptomeningeal capillary-venous malformation
Sporadic inheritance!

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

Familial Mediterranean fever inheritance, findings and treatment

A

Autosomal recessive
Recurrent attacks of fever (1-3 days) and serositis (peritonitis, pleuritis, pericarditis, synovitis), arthritis, or erysipelas like rash (overlies ankle or dorsum of the foot)
Colchicine decreases the frequency, duration, and intensity of flares

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

PHACES syndrome acronym

A

Posterior fossa brain malformation
Hemangiomas (large, segmental facial lesions)
Arterial anomalies
Cardiac anomalies and coarctation of the aorta
Eye abnormalities and endocrine abnormalities
Sternal cleft, supraumbilical raphe, or both

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

Investigations needed for PHACES

A

MRI and MRA of head and neck
CTA of brain, neck, and chest
Eye examinations (glaucoma, cataracts, microphthalmia, optic nerve hypoplasia)
Ear exams and hearing testing
Echocardiogram

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

Skin findings in tuberous sclerosis

A

Angiofibromas
Ash leaf spots
Ungual fibromas
Shagreen patches

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Russel Silver findings

A

Triangular face, prominent forehead, downturned corners of mouth, severe IUGR, growth restriction post natally, café au lait spots, hemihypotrophy, clinodactyly
Can also have feeding difficulties, developmental delays, OSA
Dx with methylation studies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Wiskott-Aldrich sydrome inheritance, findings, treatment

A

X-linked recessive
Features: Atopic dermatitis, thrombocytopenic purpura with normal appearing cells but small defective platelets, and susceptibility to infection
Treatment: immunoglobulin replacement, killed vaccines, aggressive eczema and infection management, stem cell transplant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Incontinentia pigmenti inheritance and findings

A

X linked dominant disorder
4 progressive stages of skin manifestations (vesicular, verroucus, hypopigmentation, hyperpigmentation)

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

Peutz Jeghers inheritance and findings

A

Autosomal dominant
Multiple hamartomatous polyps in the GI tract, mucocutaneous pigmentation*, and an increased risk of GI and non GI cancer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

VACTERL

A

Sporadic disorder
Vertebral
Anorectal
Cardiac (VSD)
Tracheoesophageal (TEF most common)
Renal
Limb

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Trisomy 13

A

Patau syndrome
Early lethality, median 12 days
Cleft lip
Flexed fingers with postaxial polydactyly
Ocular hypotelorism, microphthalmia
Low set, malformed ears
Microcephaly with cerebral malformation (esp. holoprosencephaly)
Cardiac malformations
Scalp defects
Hypoplastic or absent ribs
Visceral and genital anomalies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Pompe disease

A

Glycogen storage disease type 2 or acid maltase deficiency - also a lysosomal storage dx
Autosomal recessive
Infantile form is lethal without enzyme replacement
Presents in first day to weeks of life
Hypotonia, generalized muscle weakness, feeding difficulties, macroglossia, hepatomegaly, hypertrophic cardiomyopathy
Late onset is muscle weakness and resp failure

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

Lens dislocation in Marfans vs homocysteinuria

A

Marfans: Upwards
Homocyst: Downwards

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Management for Marfans

A

At least annual echo to monitor aortic root diameter
Antihypertensives to treat and prevent dilation
Avoid weightlifting and strenuous exercise

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Screening for kids with T21 in first month of life

A

FISH/karyotype to confirm
TSH
CBC by DOL 3
Echo (regardless of antenatal)
Hearing
Red reflex
Feeding assessment
Car seat test

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

How often to recheck
1. Hearing
2. Vision
3. TSH
4. CBC
in T21

A
  1. Birth, 6 mo, then q6 mo until normal hearing (~4 years) when you can switch to annually
  2. Ophtho within first 6 mo, photoscreen each visit, if not annually until 5, then q2 years until 13, then q3 years
  3. Birth, 6 mo, 1 year, then annually
  4. Annually
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

When to do sleep study in T21

A

Between 3-5 years

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

NF1 diagnosis

Study These Flashcards
A

2/7 of CAFE SPOT
1. CALMs (6+, >5 mm prepub, > 15 mm post pb)
2. Axillary or inguinal freckling
3. Fibromas (2+ neurofibromas, 1+ plexiform neurofibroma)
4. Eye (2+ Lisch nodules)
5. Skeletal abnormalities (sphenoid dysplasia, tibial pseudoarthroses, cortical thinning)
6. Positive fam hx (1st deg relative) or positive genetics
7. Optic tumor (glioma)

22
Q

Management of congenital central hypoventilation syndrome

Study These Flashcards
A

Home ventilation, trach with PPV recommended first few years of life for neurodevelopment
Annual 72 h Holter

23
Q

3 indications for soy formula

Study These Flashcards
A
  1. Galactosemia
  2. Hereditary lactase deficiency
  3. Vegetarian diet
24
Q

2 contraindications for soy formula

Study These Flashcards
A

Congenital hypothyroidism
Preterms

25
Transient myeloproliferative disorder
Up to 10% of T21 neonates High WBC counts, blasts, anemia, thrombocytopenia Usually resolves within 3 months May need transfusions No chemo unless life threatening complications High risk of developing leukemia in 3 years
26
Triad of Prune belly syndrome
Abdominal muscle deficiency Cryptorchidism Dilation of prostatic urethra, bladder, and ureters PROGRESSION TO ESRD
27
Triad of McCune Albright syndrome
Precocious puberty (vaginal bleeding #1 presentation) Fibrous dysplasia of the skeletal system (asymmetric growth) Patchy pigmentation (coast of maine CALMs)
28
Williams syndrome abnormalities
Elfin facies Friendly cocktail personality Supravalvular aortic stenosis Connective tissue anomalies Hypercalcemia Growth delay and short stature
29
Denys Drash triad
Nephropathy (infant onset nephrotic syndrome, renal failure) Ambiguous genitalia Wilms tumor
30
Smith-Lemli-Optiz syndrome
AR mutation in enzyme needed for cholesterol synthesis 7-dehydrocholesterol will be high, cholesterol normal to low Features: microcephaly, bitemporal narrowing, 2/3rd tow syndactyly, ID, heart defects, genital ambiguity in males
31
Ketotic hypoglycemia
Usually presents between 18 mo and 5 years, resolves by 8-9 years Hypoglycemia occurs during illness when intake is limited Hypoglycemia, ketonuria/emia, low insulin, elevated counter regulatory hormones, low alanine Frequent feedings, teach parents to check ketones when ill
32
Lesch-Nyhan syndrome
Purine disorder, X-linked recessive FTT, hypotonia, irritability Abnormal posturing Self-mutilation Kidney stones, gout
33
Red flag for no dental eruption, possible causes
18 months Hypothyroidism, hypopit T21 Rickets, Osteoporosis Gaucher
34
Achondroplasia inheritance and features
AD but often de novo Disproportionate short stature (short proximal limbs), macrocephaly, trident hands Sleep apnea Foramen magnum stenosis, craniocervical junction abnormalities Normal intellect Recurrent infections
35
Monitoring for achondroplasia
Hearing tests annually Sleep study at diagnosis Baseline neuroimaging HC at each visit
36
Prader Willi syndrome
Paternal inheritance Hypotonia, dysmorphisms, hyperphagia, short stature, ID, OCD like behaviours, hypogonadism Dx with DNA methylation studies Tx with food control, growth hormone
37
Angelman syndrome
Maternal inheritance, same spot as PWS Seizures, severe ID, microcephaly, ataxia, hand flapping, outbursts of laughter
38
Beckwith-Widemann syndrome inheritance and features
Methylation abnormality Neonatal hypoglycemia, macroglossia, hemihypertrophy, HSM, abdominal wall defects, ear creases/posterior helical pits
39
Becckwith Wideman at risk for what tumors
Wilms Hepatoblastoma Also neuroblastoma, rhabdomyosarcoma, adrenocortical carcinoma
40
Monitoring in Beckwith Widemann
Abdo US and AFP q 3 months until 4 years Renal US every 3 months from 4-7 years May need VMA/HVA
41
Septooptic dysplasia triad
Usually sporadic, can be AR Abnormality of the optic nerve Agenesis or hypoplasia of the septum pellucidum or corpus callosum Variable degrees of hypothalamic insufficiency (eye, brain, endo!)
42
FAO defect symptoms
Hypoketotic hypoglycemia Cardiomyopahty Rhabdo (adults) Hepatic (mild elevated liver enzymes) Often present with coma!
43
5 findings in glycogen storage disease
Hypoglycemia Hepatomegaly Lactic acidosis Hyperuricemia Elevated triglycerides and ketones
44
Tuberous sclerosis findings
Facial angiofibromas, periungual fibromas Ash leaf spots, shagreen patches Cardiac rhabdomyomas Renal cysts, angiomyolipomas Infantile spasms
45
Homocystinuria findings
Marfanoid habitus NOT hypermobile joints Developmental delay/ID Downwards lens dislocation Increased risk of thromboembolism Psych and behaviour disorders
46
Gaucher disease
Lysosomal storage disease (sphingolipidoses) Splenomegaly! Thrombocytopenia, growth restriction HSM, bone lesions, lung disease NO CNS involvement Treat with enzyme replacement therapy
47
Rett syndrome
X linked (females) MECP2 gene Regression, acquired microcephaly, hand stereotypes, sighing respirations, oral motor dysfunction, poor social interactions, seizures Increased risk of cardiac death due to arrhythmias
48
Turner syndrome
45 XO Dysmorphisms, short stature Bicuspid aortic valve, coarctation Horseshoe kidney, other renal abnormalities Autoimmune thyroid dx, celiac Skeletal malformations (Madelung deformity in radius) SNHL, recurrent AOM Difficulties in math b/c of spatial relationships, normal intelligence
49
Hurler vs Hunter syndrome
Both LSDs (mucopolysaccharidoses) Will have coarse facial features, HSM Hurler more severe Hunter only in boys, no corneal clouding
50
PKU
AR defect in enzyme phenylalanine hydroxylase High levels of Phe, low tyrosine Irreversible damage if untreated by 8 weeks of life Positive NBS = serum testing Tx: limited Phe, can do small amounts of EBM because do need some Phe, tyrosine supplementation
51
3 metabolic disorders causing acute liver failure
Tyrosinemia type 1 Hereditary fructose intolerance Galactosemia
52
What does the acyclcarnitine profile screen for
FAO defect disorders

Royal College (27 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions