Noonans syndrome

Question 1

How is noonans syndrome characteristed

Answer 1

Short stature
Congenital heart defect
Developmental delay of variable degress

Question 2

What are common findings in noonans syndrome other than key ones

Answer 2

Broad or webbed neck
Unusual chest shape w sup pectus carinatum and inf pectus excavatum, cryptorchidism, varied coagulation defects, lymhatic desplasias and ocular abnormalities

Question 3

Structural defects in noonans syndrome

Answer 3

Atrial and ventricular septal defects
Branch pulmonary artery stenosis
Tetralogy of fallot

Question 4

What genes can cause noonans syndrome

Answer 4

heterozygous pathogenic variant in BRAF, KRAS, MAP2K1, MRAS, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS2, SOS1, or SOS2

Question 5

Options for treating noonans

Answer 5

Growth hormone for short stature
Standard treamtnet for other cmplications

Question 6

Complications noonans

Answer 6

Standard treatment for juvenile myelomonocytic leukemia (JMML) and other malignancies, feeding difficulties, ADHD, behavioral problems, cryptorchidism in males, renal anomalies / hydronephrosis, strabismus, hearing loss, and Chiari malformation.
Also for platelet aggregation anomaly, specific factor deficiency

Question 7

What monitor in noonans syndrome

Answer 7

Growth parameters
Evaluation of nutritional status in infants and toddelrs
New neurological manifestations eg chronic headache, nech pain, tone, dizzy, OSA
Developmental progress
Skin exam
Opthalmology and audiology appointments
Annual cardiac evaluatons until 5 years, the every 5 years through adulthood
Coagualtion testing
Spleen and CBC assessment for JMML

Question 8

How is noonans syndrome inherited

Answer 8

Autoosmal dominant