Genetics

Question 1

What are features of Down’s syndrome?

Answer 1

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

Question 2

What are cardiac associations with Down’s syndrome?

Answer 2

Ventricular septal defect

Atrial septal defect

AV septal canal defect

Tetralogy of Fallot

PDA

Question 3

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

Answer 3

Subfertility

Short stature

Recurrent otitis media

Increased risk of ALL

Hypothyrodism

Alzheimer’s

Learning disability

Question 4

What are clinical features of Klinefelter’s syndrome?

Answer 4

Lack of secondary sexual characteristics

Taller than average

Small testicles

Infertility

Gynaecomastia (increased risk of breast cancer)

LH and FSH = High

Question 5

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

Answer 5

High

Question 6

What are features of Turner syndrome?

Answer 6

Short stature

Webbed neck

Widely spaced nipples

Primary amenorrhoea

High-arched palate

Cubitus valves

Lymphoedema as a neonate (esp of feet)

Question 7

What are associated conditions with Turner Syndrome?

Answer 7

Bicuspid aortic valve

Coarctation of the aorta

Recurrent otitis media

Recurrent UTI

Question 8

What hereditary pattern does Noonan syndrome have?

Answer 8

Autosomal dominant

Question 9

What are features of Noonan syndrome?

Answer 9

Short stature

Webbed neck

Widely spaced nipples

Broad forehead

Downward facing eyes

Low set ears

Triangular face

Ptosis

Question 10

What conditions are associated with Noonan Syndrome?

Answer 10

Congenital heart disease - esp pulmonary valve stenosis

Undescended testes

Learning disability

Coagulation problems

Question 11

What hereditary pattern does Marfan syndrome have?

Answer 11

Autosomal dominant

Question 12

What are features of Marfan syndrome?

Answer 12

Tall stature

Long neck

Long limbs

Long fingers

High arched palate

Hyper mobility

Pectus excavatum

Pes planus (flat foot)

Question 13

What conditions are associated with Marfan syndrome?

Answer 13

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

Question 14

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

Answer 14

Beta blocker or ACEi

Question 15

What are features of Fragile X Syndrome?

Answer 15

Intellectual disability

Long thin face

Large ears

High arched palate

Large testicles

Hyper mobility

Autism/ADHD

Hypotonia

Question 16

What are features of Prader-Willi Syndrome?

Answer 16

Constant insatiable hunger leading to obesity

Hypotonia as a baby

Short stature

Hypogonadism

Learning difficulties

Almond shaped eyes

Behavioural problems

Question 17

What medication can be used in Prader Willi Syndrome?

Answer 17

Growth hormone

Question 18

What are features of Angelman Syndrome?

Answer 18

Delayed development

Intellectual disability

Severe delay or absence of speech develop,ent

Fascination with water

Happy demeanour

Widely spaced teeth

Inappropriate laughter

Question 19

What are features of Edward’s syndrome?

Answer 19

Micrognathia (small lower jaw)

Low set ears

Rocker bottom feet

Overlapping of fingers

Question 20

What are features of Patau syndrome?

Answer 20

Microcephaly

Small eyes

Cleft lip/palate

Polydactyly

Scalp lesions

Question 21

What are features of William syndrome?

Answer 21

Broad forehead

Starburst eyes

Flattened nasal bridge

very friendly and sociable

Wide mouth - big smile

Small chin

Question 22

What conditions are associated with William Syndrome?

Answer 22

Supravalvular aortic stenosis

Hypercalcaemia

ADHD

Hypertension

Question 23

What are complications of Fragile X syndrome?

Answer 23

Mitral valve prolapse
Pes planus
Autism
Memory problems
Speech disorders