RIDDLE syndrome is a rare genetic disorder characterized by a combination of physical and neurological abnormalities. It is caused by a mutation in the gene that codes for the enzyme ribonucleotide reductase. Symptoms of RIDDLE syndrome include intellectual disability, seizures, hypotonia, facial dysmorphism, and skeletal abnormalities.

The symptoms of RIDDLE syndrome include:

-Developmental delay
-Intellectual disability
-Seizures
-Growth retardation
-Feeding difficulties
-Gastrointestinal problems
-Hearing loss
-Vision problems
-Speech and language delays
-Behavioral problems
-Movement disorders
-Skeletal abnormalities
-Cardiac defects
-Kidney abnormalities
-Skin abnormalities

RIDDLE syndrome is a rare genetic disorder caused by a mutation in the gene that codes for the protein RIDDLE (Ras-Induced Differentiation Defective). This mutation affects the normal development of cells, leading to a variety of symptoms. The exact cause of the mutation is unknown, but it is believed to be inherited in an autosomal recessive pattern.

The treatment for RIDDLE syndrome is focused on managing the symptoms and complications associated with the condition. Treatment may include physical therapy, occupational therapy, speech therapy, medications to control seizures, and surgery to correct any physical deformities. In some cases, a feeding tube may be necessary to ensure adequate nutrition. Additionally, genetic counseling may be recommended for families affected by RIDDLE syndrome.

The primary risk factor for RIDDLE syndrome is having a mutation in the EIF2AK3 gene. Other risk factors include a family history of the disorder, being of Ashkenazi Jewish descent, and having a parent with a balanced chromosomal translocation involving chromosome 9.

At this time, there is no known cure for Riddle Syndrome. However, medications may be used to help manage the symptoms of the condition. These may include anticonvulsants, antipsychotics, and antidepressants. Additionally, physical and occupational therapy may be beneficial in helping to improve motor skills and coordination.