Clinical Assessment and Dysmorphology

Question 1

What are important parts of a clinical history when investigating genetic diseases?

Answer 1

• Age of onset and progression.
• FH: Consanguinity, miscarriages and stillbirths.
• Examination: Dysmorphic features, and normal growth

Question 2

What is the Philitrum?

Answer 2

Indentation above the middle of the upper lip. It can be flat in some genetic disorders

Question 3

What is poly/syn-dactyly?

Answer 3

Poly - too many fingers,
Syndactyly - Webbed fingers

Question 4

What are the features of velocardiofacial syndrome (Di George Syndrome/22Q11)

Answer 4

CATCH-22
- Cardiac abnormalities (Tetralogy of fallot)
- Abnormal faces (Cleft lip and palate, small jaws, small upper lip and upward slant of palpebral fissures)
- Thymic aplasia,
- Cleft palate,
- Hypocalcaemia.

Question 5

Describe features of Rubeinstein Taybi Syndrome

Answer 5

• Downwards slanting palpebral fissure,
• Microcephaly,
• Broad thumbs and hallux,
• Intellectual disability
• Low columella
  (deletion or point mutation on the CREBBP gene)

Question 6

What should you look for on physical examination if a genetic disorder is suspected?

Answer 6

• Head shape and size,
• Eyes (Palpebral fissures and spacing)
• Ears (Size, shape, rotation),
• Nose,
• Philtrum (Too smooth like in foetal alcohol syndrome or foetal valproate syndrome),
• Mouth.
  -Limbs (disproportionate),
• Skin,
• Hands (Palmar creases, syn/poly-dactyly.