Rasopathies

Question 1

[Gen/Rasopathy/Noonan]

Most common heart defect of Noonan syndrome? (2)

Answer 1

1. Pulmonary valve stenosis
2. Hypertrophic cardiomyopathy

Question 2

[Gen/Rasopathy/Noonan]

Physical characteristics of Noonan syndrome? (3)

Answer 2

1. Short stature
2. Webbed neck
3. Lymphedema

Question 3

[Gen/Rasopathy/Noonan]

Anomalies/Symptoms of Noonan syndrome? (3)

Answer 3

1. Congenital heart defect (PS, HCMP)
2. Developmental delays
3. Bleeding diathesis

Question 4

[Gen/Rasopathy/Noonan vs others]

Cardiac defects for Turner vs Noonan vs William

Answer 4

Turner: bicuspid aortic valve, coarctation of the aorta
Noonan: pulmonary valve stenosis, hypertrophic cardiomyopathy
William: supravalvar aortic stenosis

Question 5

[Gen/Rasopathy/Costello]

Characteristics of Costello syndrome? (5)

Answer 5

1. Face: coarse, full lips, large mouth, full nasal tip, curly or sparse, fine hair
2. Skin: papillomata of the face and perianal region
3. MSK: diffuse hypotonia, joint laxity, tight Achilles tendons, short stature
4. Cardiac: hypertrophic cardiomyopathy, pulmonic stenosis
5. Neuro: Macrocephaly, Chiari I malformation, developmental delay or intellectual disability, Severe postnatal feeding difficulties

Question 6

[Gen/Rasopathy/Costello]

Genetic cause of Costello syndrome?

Answer 6

HRAS