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Russell-Silver Syndrome

Russell-Silver Syndrome



Overview

Russell-Silver syndrome is a rare genetic disorder that affects how your child’s body grows before and after birth. Children born with this condition often have a low birth weight and congenital anomalies (birth defects). In addition, they often have significant feeding issues and other health complications.

Russell-Silver syndrome is a genetic condition that can affect any child. The disorder affects boys and girls equally.

Symptoms

Signs of Russell-Silver syndrome vary widely from child to child. The condition can affect many different parts of your child’s body. Common signs of the condition may include:

Growth

Intrauterine growth restriction (IUGR): When your baby doesn’t grow as expected during your pregnancy.

Low birth weight.

Failure to grow and gain weight as expected after birth (failure to thrive).

Short stature.

Skull and facial (craniofacial) features

Large head size compared to the rest of their body (height and weight).

Delayed closure of the soft spot (fontanelle).

Triangular-shaped face.

Protruding forehead.

Narrow chin.

Small jaw (micrognathia).

Down-turned corners of their mouth.

Dental issues

Missing teeth (hypodontia).

Abnormally small teeth (microdontia).

Dental crowding.

Cleft palate.

Other physical characteristics

Arms and legs have different lengths (hemihypertrophy).

Curving inward of the fifth (pinky) fingers (clinodactyly).

Scoliosis.

Complications

Because of the physical effects of Russell-Silver syndrome, your child may experience health complications. These complications can include:

Feeding difficulty

Poor appetite.

Chronic acid reflux (GERD).

Esophagitis.

Neurodevelopment issues

Delayed motor skills (developmental delay).

Speech delay.

Learning differences.

Other complications

Growth delay.

Difficulty walking or balancing.

Hypoglycemia (low blood sugar).

Kidney problems.

Reproductive system and urinary issues.

Causes

Russell-Silver syndrome is a complicated disorder. Genetic abnormalities of certain genes that control growth have been found to cause the condition. Russell-Silver syndrome has been linked to a genetic change in chromosomes 7 or 11 in about 60% of people with the condition.

However, in about 40% of people clinically diagnosed with the condition, no genetic cause has been found. Changes involving chromosomes other than 7 and 11 may cause the condition. Researchers continue to study other genetic changes that could lead to this disorder.

Diagnosis

Diagnosing Russell-Silver syndrome can be difficult because the characteristics and severity of the condition vary widely. However, your baby’s healthcare provider will typically give your baby a physical examination. They’ll also request molecular genetic testing. Genetic testing can confirm the diagnosis in up to 60% of cases.

Treatment

Treatment for Russell-Silver syndrome varies. It depends on the symptoms present and the severity of the condition. Management of the disorder should start as soon as possible for the best possible outcome for your child. A team of healthcare providers will provide treatment for your baby. This team may include:

Your baby’s pediatrician.

A developmental pediatrician.

A physician who specializes in the skeleton (orthopedist).

A physician who specializes in glands and hormones (endocrinologist).

A physician who specializes in the digestive system (gastroenterologist).

A dietitian.

A neurologist.

A dental specialist.

A speech therapist.

A psychologist.

A genetic counselor and a geneticist.

Treatment will be associated with your child’s condition:

Growth

Nutritional support will be the most important treatment in the first two years of your child’s life. Your child’s healthcare providers will make sure your child gets enough calories. If necessary, this may be done through a feeding tube:

Nasogastric tube: A thin tube runs from your baby’s nose to their stomach through their esophagus.

Gastrostomy tube: A tube is inserted directly into your baby’s stomach through a small cut (incision) in their belly (abdomen) wall.

Growth hormone (GH) therapy:

Improves your child’s body structure, motor development and appetite.

Reduce the risk of hypoglycemia (low blood sugar).

Increases growth.

Feeding

Acid reflux may be treated with:

Smaller, more frequent meals.

Keep your baby upright while eating.

Medications including H2 blockers, which decrease acid production, and proton pump inhibitors, which are stronger acid blockers that also help heal damaged esophagus tissue.

Fundoplication: A surgical procedure that strengthens the valve (sphincter) between your child’s esophagus and stomach.

Hypoglycemia

Hypoglycemia may be treated with:

Frequent feeding.

Dietary supplements.

Complex carbohydrates.

Dental

Various dental procedures, such as braces or oral surgery, may be needed to correct problems with your child’s teeth.

Other complications

Special braces or shoes can sometimes help with walking and can improve your child’s balance. Rarely, surgery may be required to correct limb asymmetry.

In addition to treatment, your baby’s healthcare provider may recommend several therapies. These include:

Psychosocial therapy: Psychosocial therapists (social workers) provide mental health support. They can help with problems with your child’s self-image, peer relationships and social interactions.

Genetic counseling: Genetic counselors can confirm your baby’s diagnosis and offer counseling to you and your family.

Physical therapy: Physical therapists help with physical exercises to stretch and strengthen your child’s muscles and tendons.

Occupational therapy: Occupational therapists help with fine motor skills, visual perception, cognitive reasoning and sensory processing.

Speech therapy: Speech therapists help with speech, language, communication, and feeding and swallowing

Type of Doctor Department : A pediatric endocrinologist

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