About Sheldon-Hall syndrome

What is Sheldon-Hall syndrome?

Sheldon-Hall syndrome is a rare genetic disorder characterized by a combination of physical and developmental abnormalities. It is caused by a mutation in the FGFR2 gene, which is responsible for the production of a protein involved in the development of bones and other tissues. Symptoms of Sheldon-Hall syndrome include short stature, skeletal abnormalities, hearing loss, and intellectual disability.

What are the symptoms of Sheldon-Hall syndrome?

The most common symptoms of Sheldon-Hall syndrome include:

-Craniosynostosis (premature fusion of the skull bones)
-Cleft palate
-Cleft lip
-Low-set ears
-Widely spaced eyes
-Widely spaced nipples
-Short stature
-Delayed development
-Intellectual disability
-Hearing loss
-Heart defects
-Kidney abnormalities
-Gastrointestinal problems
-Scoliosis
-Joint contractures
-Facial asymmetry

What are the causes of Sheldon-Hall syndrome?

Sheldon-Hall syndrome is a rare genetic disorder caused by a mutation in the FGFR2 gene. This gene is responsible for the production of a protein that helps regulate the growth and development of bones and other tissues. The mutation in the FGFR2 gene can be inherited from a parent or can occur spontaneously.

What are the treatments for Sheldon-Hall syndrome?

The primary treatment for Sheldon-Hall syndrome is physical therapy to help improve range of motion and strength. Surgery may be recommended to correct any skeletal deformities. Other treatments may include bracing, occupational therapy, and speech therapy. In some cases, medications may be prescribed to help manage pain and other symptoms.

What are the risk factors for Sheldon-Hall syndrome?

The primary risk factor for Sheldon-Hall syndrome is having a parent with the condition. Other risk factors include having a family history of the disorder, being of Caucasian descent, and having a mutation in the FGFR3 gene.

Is there a cure/medications for Sheldon-Hall syndrome?

At this time, there is no cure for Sheldon-Hall syndrome. However, there are medications that can help manage the symptoms. These include medications to help with muscle spasms, pain, and seizures. Physical and occupational therapy can also help improve mobility and function.