Causes and risk factors
Causes of Noonan syndrome include genetic mutation. The disease can be inherited from parents.
Clinical presentation
Patient with Noonan syndrome presents with facial features such as a short or webbed neck, wide-set eyes, down-slanting eyes, thickened lids, nose that is depressed at the top, low-set ears, low hairline on the back of the head, expressionless face. Most of the children with Noonan syndrome present with a congenital heart disease. Problems in normal growth and development, low IQ, musculoskeletal abnormalities like raised or depressed sternum [pectus carinatum or pectus excavatum] are observed. Eye abnormalities like refractory errors can be seen. Bleeding disorders, lymphatic disorders may be present. There is delayed puberty in both males and females. Females in Noonan syndrome can attain fertility though delayed but male infertility due to undescended testes is observed. Kidney disorders, skin disorders are associated with Noonan syndrome.
Investigation
Medical history by the patient and Clinical examination by the doctor helps in diagnosis. It is difficult to diagnose Noonan syndrome till adulthood. Diagnosis can be confirmed by presence of two or more prominent disorders. Molecular genetic testing can be used to diagnose the disease. An ECG, echocardiogram is required in case of heart disease.
Treatment
Treatment depends upon the presenting symptoms of the patient. Heart problems should be treated with medications or even surgery. Medications to prevent bleeding are given. Genital problems such as undescended testes require surgery. Use of glasses or spectacles will help in correction of vision and refractive errors. Growth and musculoskeletal developmental delays needs hormonal intervention. Speech therapy and counselling will help in combating learning disabilities.
Other Modes of treatment
The other modes of treatment can also be effective in treating Noonan syndrome. Homoeopathy is a science which deals with individualization considers a person in a holistic way. This science can be helpful in combating the symptoms. Similarly the ayurvedic system of medicine which uses herbal medicines and synthetic derivates are also found to be effective in treating Noonan syndrome.
