Infantile choroidocerebral calcification syndrome is a rare genetic disorder characterized by the presence of calcium deposits in the brain and eyes. It is caused by mutations in the SLC20A2 gene, which is responsible for the production of a protein called phosphate transporter 2. Symptoms of this disorder can include seizures, developmental delays, intellectual disability, and vision problems. Treatment typically involves medications to control seizures and physical and occupational therapy to help with developmental delays.

The symptoms of Infantile Choroidocerebral Calcification Syndrome (ICCC) vary from person to person, but may include:

-Developmental delay

-Seizures

-Intellectual disability

-Movement disorders

-Behavioral problems

-Feeding difficulties

-Growth delays

-Hearing loss

-Vision problems

-Abnormal head shape

-Abnormal facial features

-Abnormalities of the hands and feet

-Abnormalities of the heart, lungs, and kidneys

Infantile choroidocerebral calcification syndrome is a rare genetic disorder caused by mutations in the SLC20A2 gene. This gene is responsible for the production of a protein called phosphate transporter 2 (PiT2). Mutations in this gene lead to a decrease in the amount of PiT2 produced, which in turn leads to an accumulation of calcium in the brain and choroid plexus. This accumulation of calcium can cause a variety of neurological symptoms, including seizures, developmental delays, and intellectual disability.

Unfortunately, there is no known cure for Infantile Choroidocerebral Calcification Syndrome. Treatment is focused on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, and medications to control seizures. In some cases, surgery may be recommended to reduce the size of the calcifications or to treat hydrocephalus.

1. Maternal exposure to certain medications, such as anticonvulsants, during pregnancy.
2. Maternal diabetes.
3. Maternal infection during pregnancy.
4. Low birth weight.
5. Premature birth.
6. Family history of the disorder.

Unfortunately, there is no known cure or specific medications for Infantile Choroidocerebral Calcification Syndrome. Treatment is focused on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, and medications to control seizures.