Paeds syndrome presenations

Question 1

Which genetic syndrome presents with:
- Broad forehead
- Star-like pattern on the iris
- Flattened nasal bridge
- Long philtrum
- Wide mouth with widely spaced teeth
- Very sociable and trusting
- Mild learning disability

Answer 1

Williams

Question 2

Which genetic syndrome presents with:
- Long, narrow face
- Large ears
- Intellectual disability
- Hypermobile joints
- Large testicles after puberty
- Seizures

Answer 2

Fragile X

Question 3

Which genetic syndrome presents with:
- Upslanting palpebral fissures
- Epicanthic folds
- Brushfield spots in the iris
- Protruding tongue
- Small low set ears
- Hypotonia
- Flat occiput, face and nose
- Single palmar crease
- Pronounced sandal gap

Answer 3

Down’s syndrome

Question 4

Which genetic syndrome presents with:
- Ataxia
- Severe delay/ absence of speech development
- Fascination with water
- Happy demeanour
- Inappropriate laughing
- Dysmorphic features
- Abnormal sleep patterns
- Wide mouth with widely spaced teeth
- Usually fair skin with light hair and blue eyes

Answer 4

Angelman’s

Question 5

Which genetic syndrome presents with:
- Micrognathia
- Low-set ears
- Rocker bottom feet
- Overlapping of fingers

Answer 5

Edwards’

Question 6

Which genetic condition presents with:
- Microcephalic small eyes
- Cleft lip/ palate
- Polydactyly
- Scalp lesions

Answer 6

Patau

Question 7

Which genetic syndrome presents with:
- Hypotonia
- Hypogonadism
- Obesity due to constant insatiable hunger
- Mild to moderate learning disability
- Fair, soft skin prone to bruising
- Almond shaped eyes
- Thin upper lip
- Downturned mouth
- Narrow forehead

Answer 7

Prader-Willi

Question 8

Which genetic syndrome presents with:
- Short stature
- Shield chest with widely spaced nipples
- Webbed neck
- Primary amenorrhea
- High-arched palette
- Lymphoedema
- Horseshow kidney

Answer 8

Turner’s