Genetic disorders

Question 1

Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions

Answer 1

Patau syndrome

cells gain extra genetic material from chromosome 13

Question 2

Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers

Answer 2

Edward’s syndrome (trisomy 18)

Question 3

Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism

Answer 3

Fragile X

Question 4

Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis

Answer 4

Noonan syndrome

Question 5

Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate

Answer 5

Pierre-Robin Syndrome

(this condition has many similarities with treacher-collins syndrome, however treacher-collins syndrome is autosomal dominant, so there is usually a family history of similar problems

Question 6

Hypotonia
Hypogonadism
Obesity

Answer 6

Prader-willi syndrome

Question 7

Short stature
Learning difficulties
Friendly, extrovert personality
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis

Answer 7

William’s syndrome

Question 8

Cardiac problems in turner’s patients, and where would you find the murmur

Answer 8

Aortic valve stenosis/coarction of the aorta
Bicuspid aortic valve

=Murmur would be systolic and loudest over the aortic valve

Question 9

How does Turner’s syndrome arise?

Answer 9

It is caused by either the presence of only one sex chromosome (X) or a deletion of the short arm of one of the X chromosomes

Turner’s syndrome is denoted by 45,XO or 45,X

Question 10

Short stature, webbed neck, shield shaped chest
Coarction of the aorta/bicuspid aortic valve
Primary amenhorrhoea
Cystic hygroma (often diagnosed prenatally)
High arched palate
Short fourth metatacarpal
Multiple pigmented navei
Lymphoedema (especially in the feet)

Answer 10

Turner’s syndrome

-there is also an increased incidence of autoimmune disease (especially autoimmune thyroiditis and Crohn’s)

Question 11

A two-day-old baby has not passed meconium now has a distended abdomen and is vomiting green bile. Which congenital disease does he have and what is the diagnostic test?

Answer 11

Hirschprung’s disease

Diagnostic test = rectal biopsy

Question 12

Features of hirschprung disease?

Answer 12

Delayed passing of meconium (>2 days)
Distended abdomen
Bilious vomiting

Question 13

Treatment for Hirschprung’s disease?

Answer 13

Initially with bowel washouts, followed by an anorectal “pull through” procedure - procedure where they remove affected section of bowel and form an anastamosis with the the healthy colon

Question 14

Pathophysiology behind Hirschprung’s disease?

Answer 14

Absence of ganglionic cells in the myenteric and submucosal plexuses

Question 15

What is Usher syndrome

Answer 15

Usher syndrome affects both hearing and vision

• individuals have severe/profound hearing loss (usually deaf at birth)
• individuals also have retinitis pigmentosa (will go blind)

Children also have balance problems and are slow to sit/walk by themselves

Question 16

How does retinitis pigmentosa present?

Answer 16

Night blindness and loss of peripheral vision

Question 17

What is pendred syndrome?

Answer 17

Pendred syndrome – causes bilateral hearing loss in children, can also affect the thyroid gland and cause balance problems (children usually go deaf)