Toriello-Lacassie-Droste syndrome is a rare genetic disorder characterized by intellectual disability, facial dysmorphism, and skeletal abnormalities. It is caused by a mutation in the gene encoding the protein filamin A. Symptoms may include delayed development, intellectual disability, seizures, and skeletal abnormalities such as scoliosis, kyphosis, and joint contractures.

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

-Developmental delay
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth delays
-Hearing loss
-Vision problems
-Cleft palate
-Heart defects
-Abnormalities of the hands and feet
-Kidney abnormalities
-Gastrointestinal problems
-Skeletal abnormalities
-Skin abnormalities

Toriello-Lacassie-Droste syndrome is a rare genetic disorder caused by a mutation in the NSDHL gene. This gene is responsible for producing an enzyme that helps break down cholesterol in the body. When this gene is mutated, it can lead to an accumulation of cholesterol in the body, which can cause a variety of symptoms.

Unfortunately, there is no known cure for Toriello-Lacassie-Droste 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, muscle spasms, and other symptoms. Surgery may be recommended to correct certain physical deformities. Genetic counseling may also be recommended for families affected by the condition.

1. Genetic mutation: Toriello-Lacassie-Droste syndrome is caused by a mutation in the NSDHL gene.

2. Family history: Individuals with a family history of the disorder are at an increased risk of developing the condition.

3. Age: The syndrome is more common in infants and young children.

Unfortunately, there is no cure for Toriello-Lacassie-Droste syndrome. However, there are medications that can help manage the symptoms of the condition. These include medications to help with seizures, muscle spasms, and other neurological symptoms. Additionally, physical and occupational therapy can help improve mobility and coordination.