About Autosomal recessive Robinow syndrome

What is Autosomal recessive Robinow syndrome?

Autosomal recessive Robinow syndrome is a rare genetic disorder that affects the development of bones and other parts of the body. It is caused by mutations in the ROR2 gene. Symptoms can include short stature, skeletal abnormalities, facial dysmorphism, and intellectual disability.

What are the symptoms of Autosomal recessive Robinow syndrome?

The most common symptoms of Autosomal recessive Robinow syndrome include:

-Short stature
-Abnormal facial features, including a broad forehead, a flat nasal bridge, a wide mouth, and a pointed chin
-Abnormalities of the hands and feet, including short fingers and toes, and webbing between the fingers and toes
-Abnormalities of the spine, including Scoliosis and kyphosis
-Abnormalities of the ribs, including a narrow chest and short ribs
-Abnormalities of the kidneys and urinary tract
-Hearing loss
-Intellectual disability
-Delayed development

What are the causes of Autosomal recessive Robinow syndrome?

Autosomal recessive Robinow syndrome is caused by mutations in the ROR2 gene. This gene provides instructions for making a protein that is involved in the development of many body systems, including the skeleton, heart, and kidneys. Mutations in this gene can lead to the features of Robinow syndrome.

What are the treatments for Autosomal recessive Robinow syndrome?

Currently, there is no cure for Autosomal recessive Robinow 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 other interventions to help improve mobility, communication, and overall quality of life. Additionally, genetic counseling may be recommended for families affected by the condition.

What are the risk factors for Autosomal recessive Robinow syndrome?

1. Having a family history of Autosomal recessive Robinow syndrome.
2. Being of a certain ethnic background, such as Middle Eastern or North African.
3. Having a parent who is a carrier of the gene mutation that causes Autosomal recessive Robinow syndrome.
4. Being exposed to certain environmental factors, such as certain medications or toxins.

Is there a cure/medications for Autosomal recessive Robinow syndrome?

At this time, there is no cure for Autosomal recessive Robinow syndrome. However, there are medications and treatments available to help manage the symptoms. These include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and medications to help with pain, muscle spasms, and seizures.