About Wildervanck Syndrome

What is Wildervanck Syndrome?

Wildervanck Syndrome is a rare genetic disorder that affects the development of the head and neck, as well as the cardiovascular and skeletal systems. It is caused by a mutation in the CHD7 gene, which is responsible for the development of the head and neck. Symptoms of Wildervanck Syndrome include hearing loss, facial abnormalities, and skeletal malformations.

What are the symptoms of Wildervanck Syndrome?

The most common symptoms of Wildervanck Syndrome include:

-Cervical spine abnormalities, including fusion of the vertebrae and/or malformations of the cervical spine

-Scoliosis

-Hearing loss

-Cleft palate

-Abnormalities of the eyes, including strabismus, ptosis, and/or coloboma

-Abnormalities of the hands and feet, including syndactyly, clinodactyly, and/or camptodactyly

-Intellectual disability

-Delayed motor development

-Seizures

-Cardiac defects

-Gastrointestinal abnormalities

-Renal anomalies

-Hypotonia

What are the causes of Wildervanck Syndrome?

Wildervanck Syndrome is a rare genetic disorder caused by a mutation in the CHD7 gene. This gene is responsible for the development of the inner ear, eyes, and facial features. The exact cause of the mutation is unknown, but it is believed to be inherited in an autosomal dominant pattern.

What are the treatments for Wildervanck Syndrome?

The treatments for Wildervanck Syndrome vary depending on the individual and the severity of the condition. Generally, treatment focuses on managing the symptoms and improving quality of life. This may include physical therapy, occupational therapy, speech therapy, and orthopedic surgery. Other treatments may include medications to help with muscle spasms, pain, and seizures. In some cases, surgery may be necessary to correct spinal deformities.

What are the risk factors for Wildervanck Syndrome?

The primary risk factor for Wildervanck Syndrome is a genetic mutation in the CHD7 gene. This gene is responsible for the development of the inner ear, eyes, and facial features. Other risk factors include a family history of the disorder, being female, and having a mother over the age of 35.

Is there a cure/medications for Wildervanck Syndrome?

At this time, there is no cure for Wildervanck Syndrome. However, there are medications that can help manage the symptoms of the condition. These include medications to help with muscle spasms, pain, and seizures. Physical and occupational therapy can also help improve mobility and quality of life.