Temtamy preaxial brachydactyly syndrome is a rare genetic disorder characterized by shortening of the fingers and toes, as well as other skeletal abnormalities. It is caused by a mutation in the gene PAPSS2, which is involved in the development of the skeleton. Symptoms may include shortening of the fingers and toes, syndactyly (webbing of the fingers and toes), and brachydactyly (shortening of the fingers and toes). Other features may include facial abnormalities, intellectual disability, and hearing loss. Treatment is supportive and may include physical therapy, occupational therapy, and speech therapy.

The most common symptoms of Temtamy preaxial brachydactyly syndrome include:

-Shortening of the fingers and toes
-Underdeveloped or absent thumbs
-Underdeveloped or absent big toes
-Underdeveloped or absent fifth fingers
-Underdeveloped or absent fifth toes
-Underdeveloped or absent nails
-Underdeveloped or absent knuckles
-Underdeveloped or absent joints
-Underdeveloped or absent muscles in the hands and feet
-Abnormal curvature of the fingers and toes
-Abnormal shape of the hands and feet
-Abnormal skin creases on the hands and feet
-Abnormal bone structure in the hands and feet
-Abnormal joint movement in the hands and feet
-Abnormal gait
-Delayed motor development
-Delayed speech development
-Intellectual disability

Temtamy preaxial brachydactyly syndrome is caused by a mutation in the gene called TP63. This gene is responsible for the development of the hands, feet, and face. The mutation can be inherited from a parent or can occur spontaneously.

The treatments for Temtamy preaxial brachydactyly syndrome vary depending on the severity of the condition. Generally, treatment focuses on managing the physical symptoms and improving quality of life. This may include physical therapy, occupational therapy, and orthopedic surgery to correct any skeletal deformities. In some cases, medications may be prescribed to help manage pain and other symptoms. Genetic counseling may also be recommended to help families understand the condition and its implications.

1. Genetic mutation in the TEMTAMY gene
2. Family history of the disorder
3. Maternal exposure to certain medications or environmental toxins during pregnancy
4. Advanced maternal age
5. Low birth weight
6. Premature birth

At this time, there is no known cure or medications for Temtamy preaxial brachydactyly syndrome. Treatment is focused on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, orthopedic surgery, and other supportive care.