About Iniencephaly

What is Iniencephaly?

Iniencephaly is a rare birth defect in which the baby's head is bent backwards at the neck, with the face pointing towards the sky. It is caused by a failure of the neural tube to close properly during the early stages of fetal development. Iniencephaly is usually accompanied by other birth defects, including hydrocephalus, spina bifida, and anencephaly.

What are the symptoms of Iniencephaly?

The most common symptoms of Iniencephaly include:

-Severely bent neck
-Underdeveloped or absent brain
-Underdeveloped or absent skull
-Underdeveloped or absent facial features
-Underdeveloped or absent eyes
-Underdeveloped or absent ears
-Underdeveloped or absent nose
-Underdeveloped or absent jaw
-Underdeveloped or absent arms and legs
-Underdeveloped or absent genitalia
-Underdeveloped or absent rib cage
-Underdeveloped or absent spine
-Underdeveloped or absent vertebrae
-Underdeveloped or absent chest wall
-Underdeveloped or absent abdominal wall
-Underdeveloped or absent diaphragm
-Underdeveloped or absent lungs
-Underdeveloped or absent heart
-Underdeveloped or absent digestive system
-Underdeveloped or absent urinary system
-Underdeveloped or absent reproductive system

What are the causes of Iniencephaly?

Iniencephaly is a rare birth defect that is caused by a disruption in the normal development of the neural tube during the early stages of pregnancy. The exact cause of this disruption is unknown, but it is believed to be related to genetic and environmental factors. Possible causes include exposure to certain medications, infections, and environmental toxins.

What are the treatments for Iniencephaly?

Unfortunately, there is no cure for Iniencephaly. Treatment focuses on providing supportive care to help manage symptoms and improve quality of life. This may include physical therapy, occupational therapy, speech therapy, and nutritional support. Medications may also be prescribed to help manage seizures, pain, and other symptoms.

What are the risk factors for Iniencephaly?

The primary risk factor for iniencephaly is a genetic mutation in the NIPBL gene. Other risk factors include maternal diabetes, advanced maternal age, and exposure to certain environmental toxins.

Is there a cure/medications for Iniencephaly?

Unfortunately, there is no cure for Iniencephaly. Treatment is focused on providing supportive care to help manage symptoms and improve quality of life. Medications may be prescribed to help manage seizures, pain, and other symptoms.