About Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome

What is Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome?

Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome is a rare genetic disorder characterized by the presence of extra fingers or toes (polydactyly) on the preaxial side of the hands and feet, as well as excessive hair growth on the upper back (hypertrichosis). It is caused by a mutation in the HOXD13 gene. Symptoms may also include short stature, joint contractures, and facial abnormalities. Treatment is typically focused on managing the symptoms and may include physical therapy, surgery, and medications.

What are the symptoms of Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome?

The symptoms of Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome include:

-Extra fingers or toes (polydactyly)
-Hypertrichosis (excessive hair growth) on the upper back
-Abnormalities of the hands and feet
-Cleft palate
-Cleft lip
-Heart defects
-Kidney abnormalities
-Hearing loss
-Intellectual disability
-Delayed development
-Seizures
-Abnormalities of the eyes, including strabismus, cataracts, and glaucoma

What are the causes of Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome?

Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome is caused by a mutation in the HOXD13 gene. This gene is responsible for the development of the limbs and other body parts. The mutation causes an abnormal development of the limbs, resulting in extra fingers or toes, as well as excessive hair growth on the upper back.

What are the treatments for Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome?

1. Surgery: Surgery is the most common treatment for Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome. The extra digits can be removed surgically, and the hypertrichosis can be treated with laser hair removal.

2. Genetic Counseling: Genetic counseling can help individuals and families understand the risks associated with Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome and how to manage them.

3. Physical Therapy: Physical therapy can help individuals with Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome improve their mobility and strength.

4. Occupational Therapy: Occupational therapy can help individuals with Autosomal dominant preaxial polydactyly-upperback hypertrichosis

What are the risk factors for Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome?

1. Genetic: Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome is caused by a mutation in the HOXD13 gene.

2. Environmental: There are no known environmental risk factors for this condition.

3. Age: This condition is usually present at birth.

Is there a cure/medications for Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome?

At this time, there is no known cure or medications for Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome. Treatment is focused on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, and/or surgery to correct any physical deformities. Additionally, medications may be prescribed to help manage any associated pain or discomfort.