About Cenani-Lenz syndrome

What is Cenani-Lenz syndrome?

Cenani-Lenz syndrome is a rare genetic disorder characterized by skeletal abnormalities, including short stature, joint contractures, and scoliosis. It is caused by a mutation in the WNT3 gene. Symptoms may also include facial dysmorphism, hearing loss, and intellectual disability.

What are the symptoms of Cenani-Lenz syndrome?

The symptoms of Cenani-Lenz syndrome vary from person to person, but may include:

-Delayed development
-Intellectual disability
-Growth delays
-Facial abnormalities, such as a small jaw, low-set ears, and a wide, flat nose
-Abnormalities of the hands and feet, such as extra fingers or toes, webbed fingers or toes, and/or fused fingers or toes
-Hearing loss
-Abnormalities of the spine, such as scoliosis
-Abnormalities of the eyes, such as strabismus (crossed eyes) and/or cataracts
-Abnormalities of the heart, such as a hole in the heart or an abnormal heart rhythm

What are the causes of Cenani-Lenz syndrome?

Cenani-Lenz syndrome is a rare genetic disorder caused by mutations in the WNT3 gene. These mutations can be inherited from a parent or can occur spontaneously.

What are the risk factors for Cenani-Lenz syndrome?

The primary risk factor for Cenani-Lenz syndrome is having a parent who carries a mutation in the MEGF10 gene. This gene mutation is inherited in an autosomal recessive pattern, meaning that both parents must carry the mutated gene in order for a child to be born with the condition. Other risk factors include being of Middle Eastern descent, as the condition is more common in this population.

Is there a cure/medications for Cenani-Lenz syndrome?

At this time, there is no cure for Cenani-Lenz syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and medications to help manage pain, seizures, and other symptoms.