overview
Noonan’s syndrome is a genetic disease that prevents normal development in different parts of the body. There are several ways that Noonan syndrome can affect a person. These include unusual facial features, short stature, heart defects, other physical problems, and possible developmental delays. Noonan syndrome Treatment in Hyderabad
Noonan syndrome is caused by a genetic mutation and is acquired when a child inherits a copy of an affected gene from one parent (dominant inheritance). It can also appear as a spontaneous mutation, meaning there is no family history.
symptoms
The signs and symptoms of Noonan syndrome vary widely from person to person and can be mild to severe. The properties may be related to the specific gene that contains the mutation.
Facial features
The appearance of the face is one of the most important clinical features that lead to a diagnosis of Noonan’s syndrome. These characteristics can be more pronounced in infants and young children, but they change with age. In adulthood, these distinctive features become more subtle. Noonan syndrome Treatment in Hyderabad
The functions can include:
- The eyes are large and sloping down with drooping eyelids. The iris is light blue or green.
- The ears are low and turned back.
- The nose is depressed above, with a broad base and a bulbous tip.
- The mouth has a deep groove between the nose and mouth and broad tips in the upper lip. The fold that runs from the edge of the nose to the corner of the mouth becomes deeply grooved with age. The teeth can be crooked, the inner roof of the mouth (roof of the mouth) can be very arched, and the lower jaw can be small.
- Facial features may appear coarse, but sharper as you age. The face may appear droopy and expressionless.
The reasons
- Autosomal dominant inheritance model
- Autosomal Dominant Inheritance PatternOpen Context Dialog
- Noonan’s syndrome is caused by a genetic mutation. These mutations can occur in several genes. Defects in these genes lead to the production of proteins that are continuously active. Since these genes play a role in the formation of many tissues throughout the body, this constant activation of proteins disrupts the normal process of cell growth and division.
The mutations that cause Noonan syndrome can be:
- Inherited. Children whose parents with Noonan syndrome carry the defective (autosomal dominant) gene have a 50% chance of developing the disorder.
- Coincidentally. Noonan’s syndrome can develop due to a new mutation in children who are not genetically predisposed to the disease (de novo).
Risk factors
A parent with Noonan syndrome has a 50% chance (one of two chances) of passing the defective gene on to their child. The child who inherits the defective gene may have fewer or more symptoms than the affected parent.
Complications
Complications can occur and require special attention, including:
- Developmental delays. If your child is developing, they may have difficulties with organization and spatial sense. Sometimes developmental issues are so significant that they require a special plan to meet your child’s learning and educational needs.
- Bleeding and bruising. Sometimes the excessive bleeding common in Noonan syndrome is not discovered until a person has dental work or surgery and excessive bleeding.
- Lymphatic complications. This is usually excess fluid that is stored in various parts of the body. Sometimes fluid can build up in the space around the heart and lungs.
preventions
Since some cases of Noonan’s syndrome occur spontaneously, there is no known way to prevent this from happening. However, if you have a family history of this syndrome, speak to your doctor about the benefits of genetic counseling before having children. Noonan’s syndrome can be detected through molecular genetic testing.
If Noonan syndrome is detected early, it is possible that ongoing and comprehensive treatment could prevent some of its complications, such as: B. heart disease, decreased. Noonan syndrome Treatment in Hyderabad
