Genetics Flashcards

1
Q

What are features of Down’s syndrome?

A

Face = upslanting palpebral fissures, prominent epicanthic folds, brush field spots in iris, protruding tongue, small low set ears, flat occipital

Single palmar crease

Sandal gap

Hypotonia

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2
Q

What are cardiac associations with Down’s syndrome?

A

Ventricular septal defect

Atrial septal defect

AV septal canal defect

Tetralogy of Fallot

PDA

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3
Q

What are long-term complications of Down’s syndrome?

A

Subfertility

Short stature

Recurrent otitis media

Increased risk of ALL

Hypothyrodism

Alzheimer’s

Learning disability

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4
Q

What are clinical features of Klinefelter’s syndrome?

A

Lack of secondary sexual characteristics

Taller than average

Small testicles

Infertility

Gynaecomastia (increased risk of breast cancer)

LH and FSH = High

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5
Q

Are LH and FSH high or low in Klinefelter’s?

A

High

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6
Q

What are features of Turner syndrome?

A

Short stature

Webbed neck

Widely spaced nipples

Primary amenorrhoea

High-arched palate

Cubitus valves

Lymphoedema as a neonate (esp of feet)

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7
Q

What are associated conditions with Turner Syndrome?

A

Bicuspid aortic valve

Coarctation of the aorta

Recurrent otitis media

Recurrent UTI

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8
Q

What hereditary pattern does Noonan syndrome have?

A

Autosomal dominant

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9
Q

What are features of Noonan syndrome?

A

Short stature

Webbed neck

Widely spaced nipples

Broad forehead

Downward facing eyes

Low set ears

Triangular face

Ptosis

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10
Q

What conditions are associated with Noonan Syndrome?

A

Congenital heart disease - esp pulmonary valve stenosis

Undescended testes

Learning disability

Coagulation problems

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11
Q

What hereditary pattern does Marfan syndrome have?

A

Autosomal dominant

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12
Q

What are features of Marfan syndrome?

A

Tall stature

Long neck

Long limbs

Long fingers

High arched palate

Hyper mobility

Pectus excavatum

Pes planus (flat foot)

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13
Q

What conditions are associated with Marfan syndrome?

A

Upward lens dislocation

Dilation of aortic sinuses - can lead to aortic aneurysm/dissection/regurg

Mitral valve prolapse - can lead to mitral regurgitation

Recurrent pneumothorax

Scoliosis

Ductal ectasia

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14
Q

What medication can be used in Marfan syndrome to reduce morbidity/mortality?

A

Beta blocker or ACEi

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15
Q

What are features of Fragile X Syndrome?

A

Intellectual disability

Long thin face

Large ears

High arched palate

Large testicles

Hyper mobility

Autism/ADHD

Hypotonia

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16
Q

What are features of Prader-Willi Syndrome?

A

Constant insatiable hunger leading to obesity

Hypotonia as a baby

Short stature

Hypogonadism

Learning difficulties

Almond shaped eyes

Behavioural problems

17
Q

What medication can be used in Prader Willi Syndrome?

A

Growth hormone

18
Q

What are features of Angelman Syndrome?

A

Delayed development

Intellectual disability

Severe delay or absence of speech develop,ent

Fascination with water

Happy demeanour

Widely spaced teeth

Inappropriate laughter

19
Q

What are features of Edward’s syndrome?

A

Micrognathia (small lower jaw)

Low set ears

Rocker bottom feet

Overlapping of fingers

20
Q

What are features of Patau syndrome?

A

Microcephaly

Small eyes

Cleft lip/palate

Polydactyly

Scalp lesions

21
Q

What are features of William syndrome?

A

Broad forehead

Starburst eyes

Flattened nasal bridge

very friendly and sociable

Wide mouth - big smile

Small chin

22
Q

What conditions are associated with William Syndrome?

A

Supravalvular aortic stenosis

Hypercalcaemia

ADHD

Hypertension

23
Q

What are complications of Fragile X syndrome?

A
Mitral valve prolapse
Pes planus
Autism
Memory problems
Speech disorders