Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare genetic disorder characterized by the absence of the tibia bone in one or both legs, extra fingers or toes (polysyndactyly), and an extra long thumb with three joints (triphalangeal thumb). It is caused by a mutation in the HOXD13 gene. Symptoms may include limb deformities, joint contractures, and skeletal abnormalities. Treatment typically involves surgery to correct the limb deformities and joint contractures.

The symptoms of Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome can vary from person to person, but may include:

-Absence of the tibia bone in one or both legs
-Extra fingers or toes (polydactyly)
-Extra thumb bones (triphalangeal thumb)
-Shortening of the affected limb
-Foot deformities, such as clubfoot
-Knee deformities, such as genu recurvatum
-Hip deformities, such as hip dysplasia
-Abnormalities of the spine, such as scoliosis
-Abnormalities of the hands, such as syndactyly
-Abnormalities of the feet, such as talipes equinovarus

Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare genetic disorder caused by a mutation in the HOXD13 gene. This gene is responsible for the development of the limbs and digits. The mutation can be inherited from a parent or can occur spontaneously.

Treatment for Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome typically involves a combination of surgical and non-surgical interventions. Surgical interventions may include amputation of the affected limb, bone lengthening, and/or joint fusion. Non-surgical interventions may include physical therapy, occupational therapy, and/or orthotic devices. Additionally, genetic counseling may be recommended to help families understand the condition and its implications.

1. Genetic mutation: Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is caused by a mutation in the HOXD13 gene.

2. Family history: Individuals with a family history of the condition are at an increased risk of developing the syndrome.

3. Gender: Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is more common in males than females.

4. Ethnicity: The condition is more common in individuals of African descent.

Unfortunately, there is no cure for Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome. However, there are medications and treatments available to help manage the symptoms. These include physical therapy, orthopedic surgery, and medications to help manage pain and inflammation.