About Chromosome 18q- Syndrome

What is Chromosome 18q- Syndrome?

Chromosome 18q- Syndrome is a rare genetic disorder caused by a missing piece of chromosome 18. It is characterized by a wide range of physical and mental disabilities, including developmental delays, intellectual disability, and physical abnormalities. It is estimated to affect 1 in 50,000 people.

What are the symptoms of Chromosome 18q- Syndrome?

The symptoms of Chromosome 18q- Syndrome vary from person to person, but may include:

-Developmental delays
-Intellectual disability
-Speech and language delays
-Growth delays
-Feeding difficulties
-Behavioral problems
-Hearing loss
-Vision problems
-Heart defects
-Kidney problems
-Gastrointestinal problems
-Skeletal abnormalities
-Skin abnormalities

What are the causes of Chromosome 18q- Syndrome?

Chromosome 18q- Syndrome is caused by a deletion of genetic material from the long arm (q) of chromosome 18. This deletion is usually inherited from a parent, but can also occur as a random event during the formation of reproductive cells (eggs and sperm).

What are the treatments for Chromosome 18q- Syndrome?

Treatment for Chromosome 18q- Syndrome is tailored to the individual and may include physical, occupational, and speech therapy, as well as medications to manage associated symptoms. Other treatments may include surgery to correct physical abnormalities, such as cleft palate or clubfoot. In some cases, genetic counseling may be recommended.

What are the risk factors for Chromosome 18q- Syndrome?

1. Family history of Chromosome 18q- Syndrome
2. Maternal advanced age
3. Maternal exposure to certain environmental toxins
4. Maternal use of certain medications
5. Maternal alcohol or drug use
6. Maternal smoking
7. Maternal diabetes
8. Maternal obesity
9. Maternal infection during pregnancy
10. Maternal malnutrition

Is there a cure/medications for Chromosome 18q- Syndrome?

There is no cure for Chromosome 18q- Syndrome, but there are medications and therapies that can help manage the symptoms. These include medications to help with seizures, physical therapy to help with motor skills, and speech therapy to help with communication. Additionally, genetic counseling can help families understand the condition and provide support.