Toriello-Carey syndrome is a rare genetic disorder characterized by intellectual disability, facial abnormalities, and skeletal and heart defects. It is caused by a mutation in the gene that codes for the enzyme telomerase. Symptoms can vary from person to person, but may include developmental delays, low muscle tone, seizures, hearing loss, vision problems, and heart defects.

The symptoms of Toriello-Carey syndrome vary from person to person, but may include:

-Developmental delays
-Intellectual disability
-Growth delays
-Facial abnormalities, such as a broad forehead, low-set ears, and a small jaw
-Heart defects
-Hearing loss
-Seizures
-Kidney abnormalities
-Gastrointestinal problems
-Cleft lip and/or palate
-Eye abnormalities
-Skeletal abnormalities
-Neurological problems
-Speech delays

Toriello-Carey syndrome is a rare genetic disorder caused by a mutation in the SMARCA2 gene. This gene is responsible for the production of a protein that helps regulate the activity of other genes. The mutation in this gene can lead to a variety of physical and developmental abnormalities, including intellectual disability, facial dysmorphism, and skeletal abnormalities.

There is no known cure for Toriello-Carey syndrome, but treatments are available to help manage the symptoms. These treatments may include physical therapy, occupational therapy, speech therapy, and special education services. Medications may also be prescribed to help with seizures, sleep disturbances, and other medical issues. Surgery may be recommended to correct certain physical abnormalities. Additionally, genetic counseling may be recommended to help families understand the condition and its implications.

The primary risk factor for Toriello-Carey syndrome is a genetic mutation in the NSD1 gene. This gene mutation is inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene from one parent in order to develop the condition. Other risk factors include advanced maternal age, family history of the condition, and a history of consanguinity (marriage between close relatives).

At this time, there is no cure for Toriello-Carey syndrome. However, there are medications and treatments available to help manage the symptoms. These include physical therapy, occupational therapy, speech therapy, and medications to help with seizures, muscle spasms, and other symptoms.