About Tall stature-long halluces-multiple extra-epiphyses syndrome

What is Tall stature-long halluces-multiple extra-epiphyses syndrome?

Tall stature-long halluces-multiple extra-epiphyses syndrome is a rare genetic disorder characterized by tall stature, long halluces (big toes), and multiple extra epiphyses (growth plates) in the long bones of the body. It is caused by a mutation in the gene that codes for the protein fibroblast growth factor receptor 3 (FGFR3). Symptoms may include joint pain, skeletal deformities, and delayed puberty. Treatment is supportive and may include physical therapy, orthopedic surgery, and hormone therapy.

What are the symptoms of Tall stature-long halluces-multiple extra-epiphyses syndrome?

The symptoms of Tall stature-long halluces-multiple extra-epiphyses syndrome include:

- Tall stature
- Long halluces (longer than normal big toes)
- Multiple extra-epiphyses (extra growth plates in the bones)
- Joint hypermobility
- Delayed bone age
- Delayed puberty
- Scoliosis
- Joint pain
- Muscle weakness
- Abnormal gait
- Abnormal facial features
- Intellectual disability
- Cardiac abnormalities
- Abnormalities of the eyes, ears, and teeth

What are the causes of Tall stature-long halluces-multiple extra-epiphyses syndrome?

The exact cause of Tall stature-long halluces-multiple extra-epiphyses syndrome is unknown. However, it is believed to be caused by a genetic mutation that affects the growth of bones and cartilage. It is also possible that environmental factors may play a role in the development of this condition.

What are the treatments for Tall stature-long halluces-multiple extra-epiphyses syndrome?

Treatment for Tall stature-long halluces-multiple extra-epiphyses syndrome is mainly supportive and symptomatic. Treatment may include physical therapy to help with mobility, orthopedic surgery to correct any skeletal deformities, and medications to help with pain relief. In some cases, growth hormone therapy may be recommended to help slow down the growth of the affected bones. Additionally, genetic counseling may be recommended to help families understand the condition and its implications.

What are the risk factors for Tall stature-long halluces-multiple extra-epiphyses syndrome?

1. Genetic mutation: The syndrome is caused by a mutation in the gene that codes for the protein filamin A.

2. Family history: The syndrome is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from a parent to be affected.

3. Age: The syndrome is more common in children and adolescents.

Is there a cure/medications for Tall stature-long halluces-multiple extra-epiphyses syndrome?

Unfortunately, there is no known cure or medications for Tall stature-long halluces-multiple extra-epiphyses syndrome. Treatment is focused on managing the symptoms and complications associated with the condition. This may include physical therapy, orthopedic surgery, and other interventions to help improve mobility and reduce pain.