Noonan Syndrome or Noonan Syndrome It is a genetic disease caused by a mutation of genes within the body, resulting in abnormalities in the facial area. Problems with vision, hearing, and growth have learning disabilities and the heart does not work properly
Each patient may exhibit different abnormalities. And although such abnormalities are clearly visible But patients need to undergo additional detailed diagnosis. At present, Noonan Syndrome cannot be prevented or cured. Because the cause of the disease is not clearly known. Doctors therefore focus on controlling disease symptoms and complications using appropriate methods.
Symptoms of Noonan Syndrome
Patients with Noonan Syndrome may exhibit different symptoms. And the severity of the disease ranges from mild to very severe. There will be examples of symptoms as follows.
heart abnormalities
The most common heart abnormalities in Noonan Syndrome patients are: Leaky heart valve and may occur together with abnormalities in other parts of the heart such as abnormally thick heart muscle Perforated hole between the ventricular septum Stenosis of the large arteries in the heart or arrhythmias that may be found alone without abnormalities in other areas of the heart Or it may occur with the heart abnormalities mentioned above as well.
Facial abnormalities
Facial deformity is one of the steps leading to a diagnosis of whether a patient is a candidate for Noonan syndrome. It is a clearly visible symptom and the symptoms may change according to age, such as eyes wide apart, eyelids drooping, ears set low and tilted back. The nose is flat and has a wide nose base. There is a deep groove between the mouth and nose. There are deep wrinkles from the nose to the corners of the mouth and become more noticeable with age. Crooked teeth, crooked teeth, high palate, small lower jaw, dry, rough skin. The face resembles an inverted triangle and is expressionless, has thin skin, etc.
Vision and hearing disorders
Patients may have vision problems such as squint, abnormalities such as astigmatism or nearsightedness. Uncontrolled abnormal eye movement The iris is pale blue or green, cataracts , etc. You may also have hearing problems due to abnormalities of the nerves or inner ear bones. Or there is water stuck behind the eardrum.
growth abnormalities
Children with Noonan Syndrome often have growth abnormalities, such as having normal birth weight but slow growth. They have a poor diet, resulting in insufficient nutrition and being underweight. Inadequate levels of growth hormone Growth into adolescence is slower than normal people due to delayed bone growth. The body grows normally until late adolescence but becomes short in stature when entering adulthood, for example.
Musculoskeletal disorders
Noonan Syndrome often results in patients having sunken breasts or chicken breasts, nipples that are far apart, a short neck, a thick neck, or tissue in the neck area. spinal deformity or may have poor balance
In addition, Noonan Syndrome may result in other abnormalities in the body, but these are rare symptoms, such as lymphedema on the backs of the hands or feet. mild kidney disease The liver or spleen is larger than normal. intellectual disability Unusual bleeding or skin that bruises easily due to impaired blood clotting or low platelets. Attached testicle in male patients that may result in infertility or infertility, etc.
Causes of Noonan Syndrome
Noonan Syndrome is caused by mutations at the gene level and can occur in more than one gene. Examination of DNA abnormalities in genes shows that Most patients have alterations in the PTPN11 gene, and abnormalities in the gene affect tissue production. disrupts the growth process and the separation of cells within the body. In addition, fathers or mothers suffering from this syndrome can pass on the mutated genes to their children by inheriting the dominant genetic trait. But new gene mutations may also occur in the baby.
Diagnosing Noonan Syndrome
Doctors can diagnose Noonan Syndrome in infants by the prominent symptoms of the disease. But in some cases, it may not be diagnosed until well into adulthood. This is because the symptoms of the disease may not be severe and difficult to notice. However, if it is found that there is a lot of amniotic fluid inside the mother’s womb, lumps and cysts are found around the baby’s neck. and the structure of the baby’s heart or other body systems are abnormal after the ultrasound. Doctors may suspect that the baby has Noonan Syndrome and will use tests for abnormalities in the DNA genes to help confirm the diagnosis.
Treatment of Noonan Syndrome
At present, Noonan Syndrome cannot be completely cured. Doctors will focus on treatment and reducing the severity of symptoms arising from the disease. The treatment method will depend on each patient’s symptoms, such as:
- Abnormalities related to the heart In patients who do not have severe symptoms Doctors will observe symptoms and prescribe medicine according to the symptoms of various types of heart disease and may use surgery in cases where the patient’s heart valves or other parts of the heart have abnormalities.
- Vision and hearing disorders: Patients should undergo a hearing screening. And have your eyes checked at least every 2 years, wearing glasses to help you see normally. and may undergo surgery in cases with cataracts If a patient has fluid stuck behind the eardrum The doctor may treat it by inserting a tube to drain out the trapped fluid.
- growth abnormalities Patients should have their height measured 3 times a year regularly until they are 3 years old. After that, their height should be measured once a year until they reach adulthood to ensure that the patient is growing. In addition, blood tests may be required to assess substances. Nutrition that patients receive If your baby has trouble eating, they may need to be fed through a tube. In cases where the patient has lower than normal growth hormone levels, they may need to receive growth hormone replacement.
- learning disabilities May be treated with physical therapy, visual therapy , or speech correction. In some cases, it may be necessary to receive special education or a study plan appropriate to the symptoms of the disease.
- Treatment of other abnormalities, such as surgery to treat a stuck testicle Avoid taking aspirin or medicines that contain aspirin to avoid bleeding and bruising easily. Taking medicines to help blood clot as prescribed by a doctor, for example.
Complications of Noonan Syndrome
Patients with Noonan Syndrome may have complications such as developmental delays, short stature, difficulty perceiving and understanding size, shape, position, direction, distance or dimension, and problems with social interaction. low self-confidence Abnormally excessive bleeding or bruising There is lymphedema in various areas of the body. Urinary tract infections occur from abnormal kidney function. Male patients are infertile or infertile. There is a risk of cancer such as leukemia or certain types of tumors, etc.
Preventing Noonan Syndrome
Noonan Syndrome cannot be prevented. If a family member has a history of Noonan syndrome People planning to become pregnant should seek genetic counseling before becoming pregnant. The doctor will assess the risk of transmission. genetic abnormalities to the child and may send for genetic testing to confirm the diagnosis. In addition, if abnormal symptoms are found that fall into this group of symptoms, they should see a doctor early because a quick diagnosis will help reduce complications that may can happen next
