Craniotelencephalic dysplasia is a rare genetic disorder that affects the development of the brain and skull. It is characterized by abnormal brain development, including malformations of the skull, brain, and spinal cord. Symptoms may include intellectual disability, seizures, vision and hearing problems, and physical abnormalities. Treatment is based on the individual's symptoms and may include physical therapy, medications, and surgery.

Symptoms of Craniotelencephalic dysplasia can vary depending on the severity of the condition, but may include:

-Delayed development of motor skills

-Delayed development of speech and language

-Intellectual disability

-Seizures

-Abnormal head shape

-Abnormal facial features

-Abnormal skull shape

-Abnormal brain structure

-Abnormal eye movements

-Hearing loss

-Feeding difficulties

-Growth delays

-Joint stiffness

-Muscle weakness

-Abnormal gait

-Scoliosis

-Abnormalities of the heart, lungs, and kidneys

Craniotelencephalic dysplasia is a rare genetic disorder caused by mutations in certain genes. The exact cause of the disorder is unknown, but it is believed to be caused by a combination of genetic and environmental factors. Some of the known genetic causes of Craniotelencephalic dysplasia include mutations in the genes for collagen type II, fibronectin, and laminin. Environmental factors such as exposure to certain toxins or medications may also play a role in the development of the disorder.

The treatments for Craniotelencephalic dysplasia vary depending on the severity of the condition and the individual's symptoms. Treatment may include physical therapy, occupational therapy, speech therapy, and medications to help manage seizures, muscle spasms, and other symptoms. Surgery may be necessary to correct any structural abnormalities in the brain or skull. In some cases, a feeding tube may be necessary to ensure adequate nutrition. In addition, genetic counseling may be recommended to help families understand the condition and its implications.

1. Genetic mutations
2. Exposure to certain environmental toxins
3. Maternal infections during pregnancy
4. Maternal alcohol or drug use during pregnancy
5. Maternal exposure to radiation during pregnancy
6. Maternal age over 35
7. Family history of genetic disorders

There is no known cure for Craniotelencephalic dysplasia. 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 function.