Neuhauser anomaly is a rare medical condition that affects the development of the brain and nervous system. It is characterized by a combination of physical and neurological abnormalities, including seizures, intellectual disability, and movement disorders. It is caused by a mutation in the NEU1 gene, which is responsible for the production of an enzyme called sialidase.

The symptoms of Neuhauser anomaly can vary from person to person, but may include:

-Developmental delay
-Intellectual disability
-Seizures
-Abnormal facial features
-Abnormal head shape
-Abnormal eye movements
-Hearing loss
-Feeding difficulties
-Gastrointestinal problems
-Heart defects
-Kidney abnormalities
-Skeletal abnormalities
-Skin abnormalities
-Growth delays

Neuhauser anomaly is a rare genetic disorder caused by a mutation in the gene that codes for the enzyme dihydropyrimidine dehydrogenase (DPD). This enzyme is responsible for breaking down the nucleic acid building blocks of DNA and RNA. When the enzyme is not functioning properly, the body is unable to break down these building blocks, leading to a buildup of toxic metabolites in the body. This can cause a variety of symptoms, including seizures, developmental delays, and intellectual disability.

The main treatment for Neuhauser anomaly is surgical correction. This involves removing the extra tissue and reshaping the affected area. Other treatments may include physical therapy, speech therapy, and occupational therapy to help with any developmental delays. In some cases, medications may be prescribed to help with any associated symptoms.

The exact cause of Neuhauser anomaly is unknown, but there are several risk factors that may increase the likelihood of developing the condition. These include:

• Family history of Neuhauser anomaly
• Maternal diabetes
• Maternal obesity
• Maternal smoking
• Maternal alcohol consumption
• Maternal use of certain medications
• Maternal exposure to certain environmental toxins
• Maternal age over 35
• Male gender
• Low birth weight
• Premature birth

At this time, there is no known cure for Neuhauser anomaly. However, there are medications that can help manage the symptoms associated with the condition. These medications include anticonvulsants, muscle relaxants, and anti-anxiety medications. Additionally, physical and occupational therapy can help improve motor skills and coordination.