Russell Silver syndrome

Russell-Silver Syndrome Russell-Silver Syndrome (RSS) is a rare congenital condition characterized by growth retardation, distinctive facial features, and asymmetry of the body. It is a form of primordial dwarfism and is often diagnosed in early childhood.

Clinical Features

Individuals with Russell-Silver Syndrome typically present with the following clinical features:

• Intrauterine Growth Retardation (IUGR): Babies with RSS are often born small for gestational age.
• Postnatal Growth Retardation: Continued growth deficiency after birth, leading to short stature.
• Facial Features: Triangular face, prominent forehead, and a small jaw.
• Body Asymmetry: One side of the body may be larger than the other, known as hemihypertrophy.
• Feeding Difficulties: Infants may have difficulty feeding and gaining weight.
• Developmental Delays: Some children may experience delays in motor and cognitive development.

Genetic Causes

Russell-Silver Syndrome is a genetically heterogeneous condition, meaning it can be caused by different genetic abnormalities:

• Chromosome 7: Approximately 10% of cases are due to maternal uniparental disomy of chromosome 7 (UPD7).
• Chromosome 11: Around 40% of cases are associated with hypomethylation of the imprinting control region 1 (ICR1) on chromosome 11p15.5.
• Other Genetic Factors: Other genetic and epigenetic changes may also contribute to the syndrome.

Diagnosis

Diagnosis of Russell-Silver Syndrome is based on clinical features and can be confirmed by genetic testing. The following steps are typically involved:

• Clinical Evaluation: Assessment of growth patterns, physical features, and developmental milestones.
• Genetic Testing: Testing for UPD7, hypomethylation of 11p15, and other genetic abnormalities.
• Differential Diagnosis: Exclusion of other conditions with similar features, such as Prader-Willi Syndrome and Beckwith-Wiedemann Syndrome.

Management

Management of Russell-Silver Syndrome is multidisciplinary and focuses on addressing the various symptoms and complications:

• Growth Hormone Therapy: May be used to promote growth in children with significant growth deficiency.
• Nutritional Support: Ensuring adequate caloric intake and addressing feeding difficulties.
• Orthopedic Interventions: Management of limb length discrepancies and body asymmetry.
• Developmental Support: Early intervention programs to support motor and cognitive development.

Prognosis

The prognosis for individuals with Russell-Silver Syndrome varies depending on the severity of symptoms and the effectiveness of management strategies. With appropriate interventions, many individuals can lead healthy lives, although they may remain shorter than average.

See Also

• Growth Disorders
• Genetic Syndromes
• Imprinting Disorders

NIH genetic and rare disease info

• NIH info on Russell Silver syndrome

Russell Silver syndrome is a rare disease.