About Kapur-Toriello syndrome

What is Kapur-Toriello syndrome?

Kapur-Toriello syndrome is a rare genetic disorder characterized by a combination of physical and mental abnormalities. It is caused by a mutation in the gene that codes for the enzyme ornithine transcarbamylase (OTC). Symptoms of the disorder include intellectual disability, seizures, facial abnormalities, and growth delays.

What are the symptoms of Kapur-Toriello syndrome?

The symptoms of Kapur-Toriello syndrome include:

-Developmental delay
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth retardation
-Hearing loss
-Cleft lip and/or palate
-Heart defects
-Kidney abnormalities
-Abnormalities of the hands and feet
-Abnormalities of the eyes
-Abnormalities of the face
-Abnormalities of the brain
-Abnormalities of the spine
-Abnormalities of the genitalia
-Abnormalities of the urinary tract
-Abnormalities of the gastrointestinal tract

What are the causes of Kapur-Toriello syndrome?

Kapur-Toriello syndrome is a rare genetic disorder caused by a mutation in the gene that codes for the protein filamin A (FLNA). This mutation is believed to be inherited in an autosomal recessive pattern, meaning that both parents must carry the mutated gene in order for their child to be affected.

What are the treatments for Kapur-Toriello syndrome?

Currently, there is no known cure for Kapur-Toriello syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, and medications to help with seizures, muscle spasms, and other symptoms. Surgery may be recommended to correct any physical deformities or to help improve mobility. Additionally, genetic counseling may be recommended for families affected by the condition.

What are the risk factors for Kapur-Toriello syndrome?

The primary risk factor for Kapur-Toriello syndrome is a family history of the disorder. Other risk factors include a history of consanguinity (marriage between close relatives) and a history of recurrent miscarriages.

Is there a cure/medications for Kapur-Toriello syndrome?

At this time, there is no known cure for Kapur-Toriello Syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. Medications may be prescribed to help manage seizures, muscle spasms, and other symptoms. Physical and occupational therapy may also be recommended to help improve mobility and coordination.