The Complete Guide to Russell-Silver syndrome and How it Affects Your Life

What is Russell-Silver syndrome?

Russell-Silver syndrome is a genetic disorder that causes short stature, distinctive facial features (like a wide-mouthed face, small eyes, thin lips, and a flat nose), and joint hypermobility (wasting away of the bones at the ends of the fingers and toes). You may also have an increased risk of joint pains and arthritis as you age. It’s named after the two most common symptoms: Russell’s sign (a characteristic facial appearance) and Silver’s sign (short stature). It can also be called pachydermoreticulosis or the “marble-skin” syndrome.

What are the symptoms of Russell-Silver syndrome?

Short stature: The average height for your age is about 80% of expected height. You may also be unusually small for your age, even from birth. The average height for your age is about 80% of expected height. You may also be unusually small for your age, even from birth. A distinctive facial appearance: With Russell’s sign (a characteristic facial appearance), you may have wide-set eyes, a flat nose with a small nostril opening, and a prominent upper lip (the philtrum). With Silver’s sign (short stature), you may have a low body mass index (BMI) and be underheight for your age. With Russell’s sign (a characteristic facial appearance), you may have wide-set eyes, a flat nose with a small nostril opening, and a prominent upper lip (the philtrum). With Silver’s sign (short stature), you may have a low body mass index (BMI) and be underheight for your age. Hypermobile joints: Your joints may be very flexible, especially at the knees, wrists, ankles, and elbows. Your joints may be very flexible, especially at the knees, wrists, ankles, and elbows. Increased risk of heart defects: The risk of heart defects like ventricular septal defect (a hole in the wall between the two chambers of the heart), double outlet right ventricle, left atrium-right ventricle, and ventricular septal defect (a hole in the wall between the two chambers of the heart) is increased in people with Russell-Silver syndrome.

What are the causes of Russell-Silver syndrome?

Russell-Silver syndrome is caused by a genetic mutation. There are over 50 genetic mutations associated with Russell-Silver syndrome, including some that result in similar symptoms. A parent who has Russell-Silver syndrome can pass the disease to their children, but not every child who inherits it will have the syndrome. There are several factors that increase the risk of a child inheriting Russell-Silver syndrome, including: having a parent with the syndrome, having a sibling with the syndrome, being a girl, and being a baby girl.

What are the complications of Russell-Silver syndrome?

You’re at a higher risk of joint pains and arthritis as you age because of the flexible joints, heart defects, and the fact that you may have been underheight as a child. Treatment options are available to help manage the symptoms and improve quality of life. You can learn more about the complications of Russell-Silver syndrome and treatment options in our guide for parents of children with the disease.

How is Russell-Silver syndrome diagnosed?

You may have Russell-Silver syndrome if you have one of the specific signs and symptoms, or if you have a parent who has the syndrome. You may also have the condition if you’re underheight as a child. If you’ve been diagnosed with Russell-Silver syndrome before, your doctor may be able to diagnose it again if they review your medical history and symptoms. If you’ve never been diagnosed with Russell-Silver syndrome, your doctor may conduct a blood test to detect a genetic mutation associated with the condition.

How can I prevent Russell-Silver syndrome?

There’s currently no way to prevent Russell-Silver syndrome. But you can reduce your risk of getting the condition by making sure you have a regular medical check-up and have any issues detected as soon as possible. Be aware of your risk of developing health issues, such as type 1 diabetes, high blood pressure, and joint pains. Regularly get weighed and have your body mass index (BMI) recorded by a healthcare provider. Maintain a healthy diet, exercise regularly, and maintain a reasonable body weight.