Wiedemann-Rautenstrauch Syndrome (WRS) is a rare genetic disorder characterized by growth retardation, facial abnormalities, and skeletal malformations. It is caused by a mutation in the WRN gene, which is responsible for the production of the enzyme Werner helicase. Symptoms of WRS include short stature, a triangular face, a prominent forehead, a small jaw, and a large head. Other features may include a cleft palate, low-set ears, and a small nose. Affected individuals may also have intellectual disability, seizures, and vision and hearing problems.

The most common symptoms of Wiedemann Rautenstrauch Syndrome (WRS) include:

-Growth retardation
-Microcephaly (abnormally small head)
-Facial dysmorphism (abnormal facial features)
-Hearing loss
-Developmental delay
-Seizures
-Feeding difficulties
-Cleft palate
-Cardiac defects
-Renal anomalies
-Skeletal abnormalities
-Cognitive impairment
-Behavioral problems
-Hypotonia (low muscle tone)
-Hypoglycemia (low blood sugar)
-Hypocalcemia (low calcium levels)
-Hypomagnesemia (low magnesium levels)
-Hypotrichosis (abnormal hair growth)
-Ocular abnormalities
-Gastrointestinal problems

Wiedemann-Rautenstrauch Syndrome (WRS) is a rare genetic disorder caused by a mutation in the EIF2B2 gene. This gene is responsible for the production of a protein that helps regulate the production of other proteins in the body. The mutation in this gene leads to a decrease in the production of this protein, which in turn causes the symptoms associated with WRS.

Unfortunately, there is no cure for Wiedemann Rautenstrauch Syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, and orthopedic surgery. Other treatments may include medications to help with seizures, breathing problems, and other medical issues. Additionally, genetic counseling may be recommended for families affected by the condition.

The exact cause of Wiedemann Rautenstrauch Syndrome is unknown, but it is believed to be caused by a genetic mutation. Risk factors for the syndrome include having a family history of the disorder, being of Ashkenazi Jewish descent, and being a male.

At this time, there is no cure for Wiedemann-Rautenstrauch Syndrome. However, there are medications and treatments available to help manage the symptoms. These include physical therapy, occupational therapy, speech therapy, and medications to help with seizures, breathing problems, and other medical issues.