Pseudo Hurler Polydystrophy (PHP) is a rare genetic disorder that affects the body's ability to break down certain types of sugar molecules. It is caused by a mutation in the gene that encodes the enzyme alpha-L-iduronidase. This enzyme is responsible for breaking down certain types of sugar molecules, called glycosaminoglycans, which are found in the body's connective tissues. Without this enzyme, these molecules accumulate in the body, leading to a variety of symptoms, including skeletal abnormalities, heart problems, and intellectual disability.

The symptoms of Pseudo Hurler Polydystrophy (PHP) vary from person to person, but may include:

-Delayed development
-Intellectual disability
-Growth retardation
-Facial abnormalities
-Corneal clouding
-Hearing loss
-Cardiac abnormalities
-Liver and spleen enlargement
-Joint contractures
-Muscle weakness
-Respiratory problems
-Gastrointestinal problems
-Seizures
-Behavioral problems

Pseudo-Hurler polydystrophy is caused by a mutation in the GUSB gene, which is responsible for producing the enzyme beta-glucuronidase. This enzyme is necessary for the breakdown of certain complex sugars in the body. When the enzyme is not produced, these sugars accumulate in the body, leading to the symptoms of Pseudo-Hurler polydystrophy.

The treatments for Pseudo Hurler Polydystrophy (PHP) vary depending on the severity of the condition. Generally, treatments focus on managing the symptoms and preventing further complications. These may include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and medications to help manage pain and other symptoms. In some cases, a bone marrow transplant may be recommended. Additionally, dietary modifications, such as a low-sugar diet, may be recommended to help manage symptoms.

1. Family history of Pseudo Hurler Polydystrophy
2. Mutation in the GUSB gene
3. Being of Ashkenazi Jewish descent
4. Being male
5. Being born prematurely

There is no cure for Pseudo Hurler Polydystrophy, but there are medications that can help manage the symptoms. These medications include enzyme replacement therapy, which helps replace the missing enzyme in the body, and medications to help manage pain, inflammation, and other symptoms.