Rasopathies

Question 1

[Gen/Raso/Noonan]

Most common heart defect of Noonan syndrome? (2)

Answer 1

1. Pulmonary valve stenosis
2. Hypertrophic cardiomyopathy

Question 2

[Gen/Raso/Noonan]

Physical characteristics of Noonan syndrome? (3)

Answer 2

1. Short stature
2. Webbed neck
3. Lymphedema

Question 3

[Gen/Raso/Noonan]

Anomalies/Symptoms of Noonan syndrome? (3)

Answer 3

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

Question 4

[Gen/Raso]

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/Raso/Costello]

Which syndrome?
Coarse facial features (full lips, large mouth, full nasal tip)
Curly or sparse, fine hair
Loose, soft skin with deep palmar and plantar creases
Papillomata of the face and perianal region
Diffuse hypotonia and joint laxity with ulnar deviation of the wrists and fingers

Answer 5

Costello syndrome
(HRAS-related Costello syndrome)

Question 6

[Gen/Raso/Costello]

Genetic cause of Costello syndrome?

Answer 6

HRAS

Question 7

[Gen/Raso]

Which syndrome?
Cardiac abnormalities (pulmonic stenosis,
septal defects), distinctive facial features, and
cutaneous abnormalities (xerosis, hyperkeratosis, ichthyosis), mild-moderate intellectual disability, eye abnormalities

Answer 7

Cardiofaciocutaneous Syndrome
(CFC syndrome)

Question 8

[Gen/Raso/CFC]

Facial characteristics of Cardiofaciocutaneous Syndrome (CFC syndrome) (4)?

Answer 8

1. Relative macrocephaly and high forehead
2. Triangular face
3. Cupid’s bow configuration of the upper lip
4. Downslanted palpebral fissures

Question 9

[Gen/Raso/CFC]

Most common gene for Cardiofaciocutaneous Syndrome (CFC syndrome)? (3)

Answer 9

1. BRAF (~75%)
   (also in Noonan syndrome and Noonan Syndrome with Multiple Lentigines (LEOPARD Syndrome))
2. MAP2K1, MAP2K2 (~25%)
3. KRAS

Question 10

Which syndrome?
Lentigines,
Electrocardiographic conduction abnormalities,
Ocular hypertelorism,
Pulmonary stenosis,
Abnormalities of the genitalia,
Retardation of growth, sensorineural
Deafness.

Answer 10

Noonan syndrome with Multiple Lentigines (NSML)
(formerly known as LEOPARD Syndrome)