About Familial monosomy 7 syndrome

What is Familial monosomy 7 syndrome?

Familial monosomy 7 syndrome is a rare genetic disorder caused by the deletion of a single copy of chromosome 7. It is characterized by a wide range of physical and developmental abnormalities, including growth delays, intellectual disability, facial abnormalities, and heart defects. People with this condition may also have vision and hearing problems, as well as skeletal and kidney abnormalities.

What are the symptoms of Familial monosomy 7 syndrome?

The symptoms of Familial monosomy 7 syndrome vary from person to person, but may include:

-Developmental delays
-Growth delays
-Intellectual disability
-Seizures
-Feeding difficulties
-Hearing loss
-Vision problems
-Heart defects
-Kidney abnormalities
-Cleft lip or palate
-Abnormal facial features
-Skeletal abnormalities
-Skin abnormalities
-Gastrointestinal problems
-Behavioral problems

What are the causes of Familial monosomy 7 syndrome?

Familial monosomy 7 syndrome is caused by a deletion of genetic material from chromosome 7. This deletion is usually inherited from a parent, but can also occur spontaneously.

What are the treatments for Familial monosomy 7 syndrome?

Unfortunately, there is no known cure for Familial monosomy 7 syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, and other supportive therapies. Medications may also be prescribed to help manage seizures, pain, and other symptoms. In some cases, surgery may be recommended to correct physical abnormalities.

What are the risk factors for Familial monosomy 7 syndrome?

1. Having a parent with a balanced translocation involving chromosome 7.
2. Having a parent with a deletion of part of chromosome 7.
3. Having a parent with a duplication of part of chromosome 7.
4. Having a parent with a structural rearrangement of chromosome 7.
5. Having a parent with a mutation in a gene located on chromosome 7.
6. Having a parent with a history of recurrent miscarriages.
7. Having a parent with a history of infertility.
8. Having a parent with a history of consanguinity.

Is there a cure/medications for Familial monosomy 7 syndrome?

Unfortunately, there is no cure for Familial monosomy 7 syndrome. However, there are medications that can help manage some of the symptoms associated with the condition. These medications include anticonvulsants, antipsychotics, and antidepressants. Additionally, physical and occupational therapy can help improve motor skills and coordination.