Temtamy syndrome is a rare genetic disorder characterized by skeletal abnormalities, facial dysmorphism, and intellectual disability. It is caused by a mutation in the TEMTAMY gene, which is responsible for the production of a protein involved in the development of bones and cartilage. Symptoms of the disorder include short stature, scoliosis, cleft palate, and malformed ears. Other features may include hearing loss, vision problems, and heart defects.

The symptoms of Temtamy syndrome vary from person to person, but may include:

-Intellectual disability
-Developmental delay
-Growth retardation
-Facial dysmorphism
-Cleft lip and/or palate
-Hearing loss
-Seizures
-Abnormalities of the hands and feet
-Abnormalities of the eyes
-Abnormalities of the heart and other organs
-Kidney and urinary tract abnormalities
-Gastrointestinal problems
-Behavioral problems
-Sleep disturbances

Temtamy syndrome is a rare genetic disorder caused by a mutation in the gene that codes for the protein filamin A. This mutation affects the development of the skeleton, leading to skeletal abnormalities such as short stature, scoliosis, and joint contractures. It is also associated with intellectual disability, seizures, and vision and hearing problems. The exact cause of the mutation is unknown.

The treatments for Temtamy 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 also be recommended in some cases. Other treatments may include dietary modifications, orthopedic braces, and assistive devices.

The primary risk factor for Temtamy syndrome is having a family history of the disorder. Other risk factors include being of Middle Eastern descent, having a consanguineous (related) parents, and having a parent with a balanced chromosomal rearrangement.

At this time, there is no known cure for Temtamy syndrome. However, there are medications that can help manage the symptoms of the disorder. These medications include anticonvulsants, muscle relaxants, and anti-anxiety medications. Additionally, physical and occupational therapy can help improve motor skills and coordination.