Noonan Syndrome Flashcards
1
Q
What are the symptoms of Noonan syndrome?
A
Short stature Facial dysmorphism Congenital heart defects Broad or webbed neck Cryptorchidism (undescended testes) Abnormal bleedign Hypertelorism Hearing loss Limb abnormality Developmental delay, macrocephaly
2
Q
What genes are involved in Noonan syndrome?
A
PTPN11 (50% of cases)
SOS1
RAF1
KRAS
3
Q
What is the inheritance pattern for Noonan syndrome?
A
Autosomal dominant
4
Q
What is the phenotype of the heterozygous in Noonan syndrome?
A
The symptoms of the syndrome will be inherited and displayed.
