Occipital horn syndrome (OHS) is a rare genetic disorder characterized by the presence of an occipital horn, a bony protrusion at the back of the head, and a variety of other physical and neurological abnormalities. It is caused by a mutation in the lamin A/C gene, which is responsible for the production of a protein that helps maintain the structure of the cell nucleus. Symptoms of OHS can include intellectual disability, seizures, vision and hearing problems, skeletal abnormalities, and skin abnormalities. Treatment typically involves a combination of medications, physical and occupational therapy, and genetic counseling.

The most common symptoms of Occipital Horn Syndrome (OHS) include:

-A prominent occipital bone (the bone at the back of the head)

-A prominent forehead

-A prominent jaw

-A prominent nose

-A prominent chin

-A prominent scalp

-A prominent neck

-A prominent shoulder

-A prominent chest

-A prominent abdomen

-A prominent back

-A prominent pelvis

-A prominent lower back

-A prominent upper arm

-A prominent lower arm

-A prominent hand

-A prominent foot

-A prominent elbow

-A prominent knee

-A prominent ankle

-A prominent hip

-A prominent wrist

-A prominent thumb

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Occipital horn syndrome is caused by a mutation in the lamin A/C gene. This gene is responsible for producing a protein called lamin A/C, which helps to maintain the structure of the nucleus in cells. Mutations in this gene can cause the nucleus to become misshapen, leading to the development of Occipital horn syndrome.

The treatments for Occipital horn syndrome vary depending on the severity of the condition and the individual's symptoms. Generally, treatment focuses on managing the symptoms and preventing complications. This may include physical therapy, occupational therapy, speech therapy, and orthopedic surgery. Other treatments may include medications to reduce pain and inflammation, and surgery to correct any skeletal deformities. In some cases, genetic counseling may be recommended.

The primary risk factor for Occipital horn syndrome is having a family history of the disorder. Other risk factors include being of Ashkenazi Jewish descent, having a mutation in the PLOD1 gene, and having a mutation in the ALDH18A1 gene.

Unfortunately, there is no cure for Occipital Horn Syndrome. However, there are medications that can help manage the symptoms. These include medications to reduce seizures, muscle relaxants, and medications to reduce pain. Additionally, physical therapy and occupational therapy can help improve mobility and quality of life.