Noonan syndrome

1. NOONAN SYNDROME

2. Noonan Syndrome
 Recognized by Dr. Jacqadine Noonan in 1963

3. Definition
 It is a genetic disorder that causes abnormal
development of multiple parts of the body. It
is characterized by unusual facial
characteristics, short stature, heart defects,
bleeding problems, and skeletal
malformations.

5. Epidemology
 1 in 1000 to 2500 people
 Male and females are equally affected

6. Causes
 Both sporadic and autosomal dominant
causes identified.
 PTPN II,SOS I,RAF .I,KRAS mutations

7. Clinical Features
 Webbing and short appearance of the neck
 Sunken chest
 Facial abnormalities
 Wide spaced eyes
 Congenital Heart Disease
 Coagulation defects
 Delayed puberty
 MR
 Short stature

8. Webbed Neck

10. Investigations
 Genetic testing
 ECG, ECHO
 Hearing test
 Assessment of development

11. Management
 No specific management
 Problem based management

12. Complications
 Low self esteem
 Abnormal heart structure
 Male infertility
 Social difficulty relate to physical abnormality
 Fluid accumilation in tissues
 Short stature

13. Prognosis
 Based on the extent and severity of the
problem in the individuals

14. Prevention
 Couples with genetic history can have genetic
counseling before having children.

15. Conclusion

16. Reference
 Nightingale nursing times, volume 4, number
2, February 2009.