About EVEN-plus syndrome

What is EVEN-plus syndrome?

EVEN-plus syndrome is a rare genetic disorder characterized by intellectual disability, developmental delays, and physical abnormalities. It is caused by a mutation in the EIF4EBP2 gene. Symptoms may include delayed speech and language development, poor muscle tone, seizures, and vision and hearing problems.

What are the symptoms of EVEN-plus syndrome?

The symptoms of EVEN-plus syndrome vary from person to person, but may include:

-Developmental delays
-Intellectual disability
-Seizures
-Movement disorders
-Growth delays
-Feeding difficulties
-Speech and language delays
-Behavioral issues
-Sensory processing issues
-Sleep disturbances
-Gastrointestinal issues
-Vision and hearing impairments
-Skin abnormalities
-Cardiac and respiratory issues

What are the causes of EVEN-plus syndrome?

The exact cause of EVEN-plus syndrome is unknown. However, it is believed to be caused by a genetic mutation in the gene that codes for the enzyme called lysyl oxidase-like 1 (LOXL1). Mutations in this gene are thought to lead to abnormal collagen production, which can cause the symptoms associated with EVEN-plus syndrome.

What are the treatments for EVEN-plus syndrome?

Currently, there is no known cure for EVEN-plus syndrome. Treatment focuses on managing the symptoms and helping the individual to lead a healthy and fulfilling life. Treatment may include physical therapy, occupational therapy, speech therapy, and medications to help manage seizures, anxiety, and other symptoms. Additionally, supportive counseling and behavior modification techniques may be used to help individuals with EVEN-plus syndrome cope with their condition.

What are the risk factors for EVEN-plus syndrome?

The primary risk factor for EVEN-plus syndrome is having a parent with a mutation in the EBP gene. Other risk factors include having a family history of the disorder, being of Ashkenazi Jewish descent, and having a parent with a history of consanguinity (marriage between close relatives).

Is there a cure/medications for EVEN-plus syndrome?

At this time, there is no known cure or medications for EVEN-plus syndrome. Treatment is focused on managing the symptoms and providing supportive care. This may include physical therapy, occupational therapy, speech therapy, and other interventions to help improve the individual's quality of life.