EEC syndrome (Epidermal Nevus Syndrome) is a rare genetic disorder characterized by the presence of multiple epidermal nevi (benign skin lesions) and other associated abnormalities. These may include abnormalities of the eyes, teeth, nails, and other organs. The syndrome is caused by a mutation in the PIK3CA gene.

The most common symptoms of EEC syndrome include:

-Cleft lip and/or palate
-Abnormalities of the eyes, ears, and/or face
-Hearing loss
-Developmental delays
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth delays
-Kidney and/or urinary tract abnormalities
-Heart defects
-Cleft hand and/or foot
-Gastrointestinal problems
-Skeletal abnormalities

EEC syndrome is caused by a genetic mutation in the TP63 gene. This gene is responsible for the production of a protein called p63, which is essential for the development of the skin, nails, teeth, and other structures. Mutations in this gene can lead to the development of EEC syndrome.

The treatments for EEC syndrome vary depending on the severity of the condition and the individual's specific needs. Generally, treatment focuses on managing the physical and developmental issues associated with the syndrome. This may include physical therapy, occupational therapy, speech therapy, and/or special education services. Surgery may be necessary to correct any physical deformities. Additionally, medications may be prescribed to help manage any associated medical conditions, such as seizures or gastrointestinal issues.

The primary risk factor for EEC syndrome is having a family history of the disorder. Other risk factors include having a parent with a history of cleft lip or palate, being of Native American or Asian descent, and being exposed to certain medications or environmental toxins during pregnancy.

At this time, there is no cure for EEC syndrome. However, there are medications that can help manage the symptoms of the condition. These include anticonvulsants, muscle relaxants, and medications to help with sleep and behavior. Additionally, physical and occupational therapy can help improve motor skills and coordination.