About Isolated arhinencephaly

What is Isolated arhinencephaly?

Isolated arhinencephaly is a rare congenital disorder characterized by the absence of the cerebrum, the largest part of the brain. It is a form of anencephaly, a condition in which parts of the brain and skull are missing. People with isolated arhinencephaly typically have normal brain stem and cerebellum, but lack the cerebral hemispheres. This condition is usually fatal and is not compatible with life.

What are the symptoms of Isolated arhinencephaly?

The symptoms of isolated arhinencephaly vary depending on the severity of the condition. Generally, the symptoms include:

-Severe intellectual disability
-Seizures
-Feeding difficulties
-Lack of muscle tone
-Abnormal head shape
-Absent or underdeveloped brain structures
-Absent or underdeveloped eyes
-Absent or underdeveloped nose
-Absent or underdeveloped ears
-Absent or underdeveloped jaw
-Absent or underdeveloped tongue
-Absent or underdeveloped teeth
-Absent or underdeveloped facial features
-Absent or underdeveloped scalp
-Absent or underdeveloped scalp hair
-Absent or underdeveloped scalp muscles
-Absent or underdeveloped scalp skin
-Absent or underdeveloped scalp bones
-Absent or underdeveloped scalp veins

What are the causes of Isolated arhinencephaly?

Isolated arhinencephaly is a rare congenital disorder caused by a mutation in the ARHGAP11B gene. This gene is responsible for the development of the forebrain, which is the part of the brain responsible for higher-level thinking and decision-making. Mutations in this gene can lead to the incomplete development of the forebrain, resulting in isolated arhinencephaly. Other causes of isolated arhinencephaly include chromosomal abnormalities, environmental factors, and genetic syndromes.

What are the treatments for Isolated arhinencephaly?

Unfortunately, there is no known cure for isolated arhinencephaly. Treatment focuses on managing the symptoms and providing supportive care. This may include physical therapy, occupational therapy, speech therapy, and nutritional support. Medications may also be prescribed to help manage seizures, reduce muscle spasms, and improve breathing. In some cases, surgery may be recommended to help improve the quality of life.

What are the risk factors for Isolated arhinencephaly?

The exact cause of isolated arhinencephaly is unknown, but there are several risk factors that may increase the likelihood of a baby being born with this condition. These include:

• Advanced maternal age (over 35 years old)

• Maternal diabetes

• Maternal exposure to certain medications or toxins

• Maternal infection during pregnancy

• Maternal alcohol or drug use during pregnancy

• Maternal smoking during pregnancy

• Family history of neural tube defects

• Low maternal folate levels

• Low maternal vitamin B12 levels

• Low maternal zinc levels

• Low maternal iron levels

• Low maternal vitamin A levels

• Low maternal vitamin D levels

• Low maternal vitamin E levels

• Low maternal selenium levels

• Low maternal magnesium levels

Is there a cure/medications for Isolated arhinencephaly?

Unfortunately, there is no cure or medications for isolated arhinencephaly. Treatment focuses on managing the symptoms and providing supportive care. This may include physical therapy, occupational therapy, speech therapy, and nutritional support.