Stromme syndrome is a rare genetic disorder characterized by intellectual disability, facial dysmorphism, and skeletal abnormalities. It is caused by a mutation in the STK39 gene. Symptoms may include delayed development, low muscle tone, seizures, and vision and hearing problems.

The symptoms of Stromme syndrome vary from person to person, but some of the most common symptoms include:

-Developmental delay
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth retardation
-Hearing loss
-Vision problems
-Heart defects
-Abnormalities of the hands and feet
-Kidney problems
-Gastrointestinal issues
-Skin abnormalities

Stromme syndrome is a rare genetic disorder caused by a mutation in the CEP290 gene. This gene is responsible for the production of a protein that is essential for the normal development of the eye and the central nervous system. Mutations in this gene can lead to a variety of symptoms, including intellectual disability, vision problems, hearing loss, and skeletal abnormalities.

The treatments for Stromme syndrome vary depending on the individual and the severity of the condition. Treatment may include physical therapy, occupational therapy, speech therapy, and medications to help manage symptoms. Surgery may be necessary to correct any physical deformities or to improve vision. In some cases, genetic counseling may be recommended.

The primary risk factor for Stromme syndrome is having a parent who carries a mutation in the GPC6 gene. Other risk factors include having a family history of the disorder, being of Scandinavian descent, and being a male.

At this time, there is no known cure for Stromme syndrome. However, there are medications that can help manage the symptoms of the condition. These include medications to help control seizures, muscle spasms, and other neurological symptoms. Additionally, physical and occupational therapy can help improve mobility and coordination.