This is a hereditary disorder characterized by unusual facial characteristics, short stature, heart defects, other physical problems and possible developmental delays. In this type of syndrome there is abnormality in the normal development of various parts of body.
Symptoms can vary and depends upon the type of gene which is affected. Symptoms include:
- Down-slanting eyes
- Eyes wide-set
- Irises pale blue to green
- Nose which is depressed at it’s tip
- Mouth with a deep groove between the nose and the mouth and wide peaks in the upper lip.
- Prominent forehead and a low hairline on the back of the head
- Skin become transparent and thin with aging
- Pulmonary valve stenosis and other valve disorders
- Hypertrophic cardiomyopathy
- Structural defects of heart
- Delayed growth include short stature
- Webbed neck
- Learning disabilities and intelligence will be low
- Myopia or hyperopia
- Cataracts and nystagmus
- Genitals and kidney disorders
- Delayed puberty
Noonan disease is an autosomal dominant disorder caused by the genetic mutation in multiple genes. This lead to the production of abnormal proteins and disruption of normal process of cell division and growth. Mutation can be hereditary or random/denovo.
- Easy bruising and bleeding tendency
- Development delay
- Lymphatic drainage problems
- Urinary tract infection
- Fertility problem
- Increase risk of leukemias
Diagnosis of this condition depends upon detailed medical history and complete general physical examination of the patient. However, it is finally diagnosed by molecular genetic testing.
Although there’s no treatment to repair a genetic mutation although some approaches can be taken to minimize other related problems of this disease.
- Treatment of heart problems with certain medications or surgery
- Growth hormone therapy for treating low growth rate.
- Treatment of bleeding and bruising along with stopping aspirin containing medications.
- Lymphatic problem treatment
- Surgery for genital problems