Treatment for Genetic Diseases in Port St. Lucie, FL
Genetic Disorder Treatment Services in Florida
Pediatric genetic disorders are a broad class of health conditions that occur when a child has an abnormal chromosome. Whether a genetic disorder is inherited or occurs due to a spontaneous mutation, it can result in a variety of health problems. Recognizing and treating genetic diseases in children can help your children improve their quality of life.
Common Types of Genetic Disorders in Children
Some common disorders include:
- Klinefelter syndrome: This childhood genetic disease causes males to be born with an extra X chromosome. They may have low testosterone and accompanying physical changes.
- Polycystic ovary syndrome (PCOS): This is a condition where women produce too many male sex hormones. Polycystic ovary syndrome is often diagnosed in early puberty when girls do not get their period regularly.
- Noonan’s syndrome: Noonan’s syndrome is a genetic condition with a broad range of physical malformations. In some cases, it can cause intellectual disability as well.
- Turner syndrome: This is one of the rarest genetic disorders, and it causes a child to be born with only one X chromosome. Much like PCOS, this genetic disease can delay puberty and cause infertility.
- William syndrome: This causes delays to development, including both delayed growth and mental deficiency.
- Multiple endocrine neoplasia (MEN) syndrome: This is a syndrome where people develop tumors on their endocrine glands. The tumors are not always cancerous, but they can affect gland activity.
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How to Identify Symptoms of Genetic Disorders
Pediatric genetics are fairly complicated, so not all childhood genetic diseases will present themselves in the same way. Just about any time your child has a health problem that will not go away, a genetic disease might be the culprit. Depending on the condition, you might notice one or more of these symptoms of genetic disorders:
- Failure to meet developmental milestones like standing, talking or reading
- Malformed or missing body parts
- Unusually slow growth or failure to thrive
- Diagnosis of kidney disease, cystic fibrosis, or other chronic health conditions
- Extreme hearing or vision loss
- Unusually colored hair, skin, or eyes
- Unusually shaped facial features
- Abnormal amounts of body hair
Treatment for Pediatric Genetic Disorders
Treatment for genetic disorders in children tends to vary based on what condition a child has. In cases where the child did not develop properly, surgery can treat issues like cleft palates or other birth defects. For conditions where a child is not producing enough hormones, supplements and medications can help.
Many types of rarest genetic disorders are not entirely curable. However, the right care and treatment can ensure your child experiences as few symptoms of their pediatric genetics issue as possible. An early diagnosis of symptoms of genetic disorders can help improve childhood development and ensure your child gets appropriate care. This can range from assistive devices to behavioral therapy or medication.
The Pediatric Endocrine and Metabolic Center of Florida is here to help your family in this challenging time. Our highly trained team has plenty of experience diagnosing and treating genetic issues in children. Schedule an appointment now to get started.
“Dr. Palau is Amazing! She takes her time and explains everything thoroughly. Especially to my 12 year old daughter. She cares and listens to any concerns and questions we have had. I can’t recommend her enough!!! Thank You Dr. Palau!”
