Autosomal dominant Robinow syndrome is a rare genetic disorder that affects the development of bones and other parts of the body. It is caused by a mutation in the ROR2 gene and is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed for a person to be affected by the disorder. Symptoms of the disorder can include short stature, skeletal abnormalities, facial dysmorphism, and genital abnormalities.

The most common symptoms of Autosomal dominant Robinow syndrome include:

-Short stature
-Abnormal facial features, including a broad forehead, a flat nasal bridge, a wide mouth, and a pointed chin
-Abnormal hands and feet, including short fingers and toes, and a single crease across the palm
-Abnormalities of the spine, including Scoliosis and kyphosis
-Abnormalities of the ribs
-Abnormalities of the kidneys
-Hearing loss
-Delayed development
-Intellectual disability

Autosomal dominant Robinow syndrome is caused by a mutation 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. The mutation disrupts the normal function of the ROR2 protein, leading to the signs and symptoms of Robinow syndrome.

1. Surgery: Surgery may be recommended to correct any skeletal abnormalities associated with Robinow syndrome. This may include corrective osteotomies to realign the bones, spinal fusion to stabilize the spine, and joint replacement to improve mobility.

2. Physical Therapy: Physical therapy can help improve strength, flexibility, and range of motion.

3. Orthotics: Orthotics, such as braces, splints, and casts, can help support weakened joints and improve posture.

4. Medications: Medications may be prescribed to help manage pain and reduce inflammation.

5. Assistive Devices: Assistive devices, such as wheelchairs, walkers, and canes, can help improve mobility.

1. Genetic mutation: Autosomal dominant Robinow syndrome is caused by a mutation in the ROR2 gene.

2. Family history: Individuals with a family history of Autosomal dominant Robinow syndrome are at an increased risk of developing the condition.

3. Age: Autosomal dominant Robinow syndrome is more common in children and young adults.

There is no cure for Autosomal dominant 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 medications to help with pain, muscle spasms, and other symptoms.