Genetic Syndrome Associations Flashcards

You may prefer our related Brainscape-certified flashcards:
1
Q

What cardiac abnormality is associated with William’s syndrome?

A

Supravalvular aortic stenosis

Can also see pulmonary stenosis

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

What is the cardiac abnormality associated with DiGeorge Syndrome?

A
  • Most common cardiac finding is a VSD with other common findings including right sided aortic arch, conotruncal heart defects (including TOF most commonly but any cardiac outflow tract disorders), and aberrant subclavian arteries
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is the cardiac abnormality associated with Down Syndrome?

A

Most common cardiac lesions are endocardial cushion defects (ASD, VSD and AVSD*)
Can also have PDA, aberrant subclavian arteries, and pulmonary hypertension, mitral/aortic/tricuspid valve regurg

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

What is the cardiac abnormality associated with Turner’s Syndrome?

A

Most common cardiac anomaly is bicuspid aortic valve
Can also have coarctation of the aorta, cardiac conduction abnormalities, hypoplastic left-heart syndrome and other left-heart abnormalities, and aortic dissection later in life

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

What is PHACES Syndrome?

A

Posterior fossa malformation
Hemangiomas- large segmental facial lesions
Arterial abnormalities
Cardiac abnormalities- especially coarctation
Eye abnormalities
Sternal cleft

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

What is the inheritance of SMA?

A

Autosomal Recessive

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

What is the inheritance of DiGeorge Syndrome?

A

93% denovo mutations

AD inheritance of these mutations - in future generations

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

What are the clinical features of DiGeorge Syndrome?

A
CATCH-22 *deletion of 22q11 
Cardiac- VSD, conotruncal abnormalities 
Abornmal facies- tubular nose
Thymic hypoplasia- T cell abnormalities- wait to given live vaccines
Cleft palate 
Hypocalcemia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What are the clinical features of McCune Albright Syndrome?

A

McCune-Albright Syndrome:
Syndrome of endocrine dysfunction associated with patchy cutaneous pigmentation and fibrous dysplasia of the skeletal system
Rare condition; classic cause of peripheral precocious puberty
Features include:
Precocious puberty→ predominantly in girls
Hyperthyroidism with multinodular goiters
Cushing syndrome may also occur – low ACTH, adrenal function not suppressed by exogenous steroids, may require adrenalectomy
Increased GH occurs uncommonly
Geographical hypopigmentation that respects the midline

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

What are clinical features of Klinefelter’s Syndrome?

A

“Male Turner’s Syndrome”
47 XXY
1 in 600 males
Puberty often begins at appropriate age, penile enlargement and pubic hair
Key finding is disproportionately small, firm testes, gynecomastia, infertility
Increased learning and behavioral difficulties

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

What are clinical features of Turner’s Syndrome?

A
Turner Syndrome
Karyotype range from complete 45 XO to forms of mosaicism (eg 45 X,46 XX)
1 in 2000 live female births
Mean adult height (untreated) 144 cm
Growth hormone improves height
Gonadal failure 96%, infertility 99%
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Which syndrome is associated with hypercalcemia in the neonatal period in 10% of children?

A

William’s Syndrome

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

What are features of Noonan’s Syndrome?

A

Previous known as pseudo-Turner’s Syndrome
Hypertelorism, blue eyes, downward slanting palpebral fissures, webbed neck, pectus excavatum, may have delayed puberty (cryptoorchidism, small penis)
May have lymphedema of the hands and feet
Heme- may have coagulopathy

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

What are features of CHARGE syndrome?

A

Coloboma of the eye +/- microphthalmia
Heart defects- conotruncal abnormalities; arch abnormalities
Atresia- choanal atresia*
Retardation of growth
GU/GI- microphallus and other abnormalities
Ears- malformed helix, deafness; extremities- club foot, absent tibia

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

What are features of VACTERL?

A
Vertrebral abnormalities
Anal atresia
Cardiac defects
Tracheoesophageal defects
Renal abnormalities
Limb abnormalities 

*denovo mutations

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

How is the diagnosis of Tuberous Sclerosis Complex made? What are the major and minor criteria?

A

Need 2 MAJOR or 1 MAJOR and 2 MINOR

Major Cx: 
Cortical tuber 
Subependymal nodule 
Subependymal giant cell astrocytoma 
Facial angiofibroma or forehead plaque 
Ungal or periungal fibroma
Hypomelanotic macules (>3- Ash leaf spots)
Shagreen Patch 
Multiple retinal hamartomas 
Cardiac rhabdomyoma 
Renal angiomylolipoma 

Minor Cx:
Multiple dental pits, gingival fibromas, bone cysts, confetti skin lesions, non-renal hamartomas, multiple renal cysts

17
Q

What is TSC associated with?

A

Polycystic Kidney Disease

18
Q

What are examples of imprinting disorders?

A

Prader Willi Syndrome
Angelman Syndrome
Russel Silver Syndrome
Beckwith Weidman Syndrome

19
Q

What is the most commonly inherited disorder of congenital pancytopenias?

A

Fanconi Anemia

20
Q

What are features of Fanconi anemia?

A

Abnormal thumbs- bifid, supernumerary, or absent
Absent radius
Hypopigmented lesions
Short stature
Will develop marrow failure within the first decade of life

21
Q

What is the most common inherited cause of intellectual disability?

A

Fragile X

22
Q

A baby has a direct hyperbilirubinemia. He was treated for an E. coli sepsis. He has hepatomegaly on exam. Which test will likely yield the diagnosis?

A

GALT

  • E Coli Sepsis should raise concern for galactosemia which is a deficiency in GALT enzyme
  • Screened for on NBS
  • Autosomal recessive inheritance
23
Q

What are four long term complications to monitor for in Williams Syndrome?

A
ECHO- supravalvular aortic stenosis
Thyroid function- hypothyrodism
Ophtho- catarcts
Learning assessment- intellectual disability 
Nephrocalcinosis
24
Q

How is the diagnosis of Galactossemia suggested? How is it confirmed?

A

Urine reducing substances

GALT assay