Noonan Syndrome Flashcards
True or false, individuals with Noonan Syndrome have a normal karyotype?
True.
What group of conditions does Noonan Syndrome fall into?
RASopathies
What is the most commonly known gene mutations to cause Noonans?
PTPN11 gene
In what proportion of cases is Noonan syndrome familial? How is it inherited in this case?
20%, autosomal dominant
Name 7 facial features of Noonan syndrome
- Hypertelorism
- Epicanthus
- Downward slanting palpebral fissures
- Ptosis
- Micrognathia
- Ear abnormalities
- Cupid bow upper lip
Name 6 other physical features of Noonan Syndrome
- Short stature
- Webbing of the neck
- Pectus carinatum or excavatum
- Cubitus valgus (wide carrying angle at elbow)
- Clinodactyly
Name 2 eye features of Noonan Syndrome
- Strabismus
2. Amblyopia
What is a classic ENT finding in Noonan Syndrome?
high frequency sensorineural hearing loss
Name 2 classic cardiac disease findings in those with Noonan Syndrome
- Pulmonary stenosis
2. Hypertrophic cardiomyopathy
Name 4 GU findings that can be seen with Noonan syndrome
- Hernias
- HSM
- Cryptorchidism
- Small testes
What two clotting factors can be low in individuals with Noonan Syndrome?
XI, XII
What is the mean IQ in those with Noonans?
btw 53-127 (ie variable)
Verbal IQ tends to be better than performance IQ
When should you suspect a prental diagnosis of Noonan’s syndrome>?
Normal karyotype but edema, hydrops and short femur length are present
Name 3 important investigations that should be done in those with Noonan’s
- ECG/echo
- Audiologic evaluation
- Ophthalmology follow-up
How could you make a definitive diagnosis of Noonan’s syndrome?
Microarray/DNA based testing.
