Syndromes

Question 1

What are the physical features of Noonan syndrome? + cardiac condition

Answer 1

Autosomal dominant disorder

Deep grooved philtrum
Excess nuchal skin fold
Widely spaced eyes
Low set ears

Normal tone

Pulmonary valvular stenosis
Hypertrophic cardiomyopathy

Question 2

What are the features of Prader-Willi syndrome?

Answer 2

Feeding difficulties
Faltering growth
Then excessive hunger and obesity
Hypotonia
Delayed developmental milestones
Cryptorchidsm/lack of sexual development

Question 3

What are the features of Turner syndrome?

Answer 3

45 XO
Only affects females

Short stature
Webbed neck
Low set ears
Widely spaced nipples

+ aortic co-arctation

Question 4

What are the features of Klinefelter syndrome?

Answer 4

47 XXY
Delayed puberty
Tall stature

Question 5

What are the features of Kallmann syndrome?

Answer 5

Form of hypogonadotrophic hypogonadism
Anosmia/hyposmia
Puberty delayed/fails to start

Question 6

What are the features of Edward syndrome? + cardiac conditions

Answer 6

Trisomy 18
Micrognathia
Low set ears
Prominent forehead and occiput
Hypoplastic nails
Overlappy index and middle finger
Rocker bottom feet

+ atrial septal defect
ventricular septal defect
persistent ductus arteriosus

+ multiple large choroid plexus cysts

Question 7

What are the features of Edward syndrome?

Answer 7

Trisomy 13
Midline defects - cleft palate, cardiac anomalies

Question 8

What are the features of Pierre Robin sequence?

Answer 8

Cleft palate
Glossoptosis
Micrognathia

Question 9

What are the features of Down syndrome? + cardiac conditions

Answer 9

Trisomy 21

Epicanthic folds
Broad nasal bridge
Upslanting palpebral fissures
Macroglossia

Duodenal web/atresia
Hirschsprungs

+AVSD

Question 10

What are the features of foetal-alcohol syndrome?

Answer 10

Smooth philtrum
Thin vermillion border
Short palpebral fissures
Intellectual disability

Question 11

What are the features of Williams syndrome? + cardiac

Answer 11

Rare and sporadic chromosomal microdeletion (loss of genetic material from chromosome 7)

Epicanthic folds
Full lips
Flat nasal bridge

High anxiety levels
Hypercalcaemia

+ supravalvular aortic stenosis

Question 12

What are the features of Fragile X syndrome?

Answer 12

FMR1 mutation
X-linked dominant

Learning difficulties

Large ears
Long noses
High forehead
Increased testicular volume

Question 13

Features of MPS 1? (Mucopolysaccharidosis)

Answer 13

Normal development then delay and plateau
Reduced growth
Mixed hearing impairment
Recurrent URTIs
Micrognathia/macroglossia
Hepatosplenomegaly

Rare lysosomal storage disorder leads to failure to break down glycosaminoglycans - which accumulate and cause organ damage

Detected through urine glycosaminoglycans