Acrocallosal Syndrome, Schinzel Type is a rare genetic disorder that affects the development of the brain and other parts of the body. It is caused by a mutation in the NDE1 gene. Symptoms of this disorder include intellectual disability, seizures, facial abnormalities, and skeletal malformations. Other features may include hydrocephalus, cleft lip and/or palate, and polydactyly. Treatment is supportive and may include physical, occupational, and speech therapy.

The symptoms of Acrocallosal Syndrome, Schinzel Type, vary from person to person, but may include:

-Delayed development

-Intellectual disability

-Seizures

-Feeding difficulties

-Growth delays

-Abnormal facial features, including a prominent forehead, wide-set eyes, and a small jaw

-Widely spaced teeth

-Hearing loss

-Abnormalities of the hands and feet, including extra fingers and toes

-Abnormalities of the spine

-Abnormalities of the heart and other organs

Acrocallosal Syndrome, Schinzel Type is caused by a mutation in the GLI3 gene. This gene is responsible for the production of a protein that is involved in the development of the brain and other organs. Mutations in this gene can lead to a wide range of physical and mental disabilities, including intellectual disability, seizures, and facial abnormalities.

1. Physical therapy: Physical therapy can help improve muscle strength, coordination, and balance. It can also help with posture, gait, and mobility.

2. Occupational therapy: Occupational therapy can help with activities of daily living, such as dressing, eating, and bathing.

3. Speech therapy: Speech therapy can help with communication and swallowing difficulties.

4. Surgery: Surgery may be necessary to correct certain physical deformities or to improve breathing.

5. Medications: Medications may be prescribed to help with seizures, pain, and other symptoms.

6. Nutritional support: Nutritional support may be necessary to ensure adequate nutrition.

7. Genetic counseling: Genetic counseling can help families understand the condition and its implications.

1. Genetic mutation in the GLI3 gene
2. Family history of Acrocallosal Syndrome, Schinzel Type
3. Maternal diabetes
4. Maternal obesity
5. Maternal advanced age
6. Maternal use of certain medications during pregnancy
7. Exposure to certain environmental toxins during pregnancy

At this time, there is no cure for Acrocallosal Syndrome, Schinzel Type. However, there are medications and treatments available to help manage the symptoms. These include medications to help control seizures, physical therapy to help with motor skills, and speech therapy to help with communication. Additionally, surgery may be recommended to help with certain physical deformities.