Silver–Russell syndrome

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Silver–Russell syndrome
Synonyms	Russell–Silver syndrome, SRS
Pronounce
Specialty	Medical genetics
Symptoms	Growth retardation, short stature, limb asymmetry, facial dysmorphism
Complications	N/A
Onset	Prenatal
Duration	Lifelong
Types	N/A
Causes	Genetic
Risks
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	Intrauterine growth restriction, Prader-Willi syndrome, Beckwith-Wiedemann syndrome
Prevention	N/A
Treatment	Growth hormone therapy, nutritional support, orthopedic management
Medication
Prognosis	Variable, generally good with treatment
Frequency	1 in 30,000 to 1 in 100,000
Deaths

Silver–Russell syndrome (SRS), also known as Russell–Silver syndrome (RSS), is a rare congenital condition characterized by intrauterine growth restriction, postnatal growth retardation, and distinctive facial features. It was first described by Henry Silver and Alexander Russell in the 1950s.

Signs and Symptoms

Individuals with Silver–Russell syndrome typically present with:

• Intrauterine growth restriction (IUGR)
• Postnatal growth retardation
• Triangular face with a prominent forehead
• Micrognathia (small jaw)
• Clinodactyly (curved fifth finger)
• Asymmetry of the body (hemihypertrophy)
• Feeding difficulties in infancy
• Hypoglycemia (low blood sugar levels)

Genetics

Silver–Russell syndrome is a genetically heterogeneous condition. The most common genetic abnormalities associated with SRS include:

• Maternal uniparental disomy of chromosome 7 (mUPD7)
• Hypomethylation of the imprinting control region 1 (ICR1) on chromosome 11p15.5

Diagnosis

The diagnosis of Silver–Russell syndrome is primarily clinical, based on the characteristic features. Genetic testing can confirm the diagnosis by identifying the specific genetic abnormalities.

Management

Management of Silver–Russell syndrome involves a multidisciplinary approach, including:

• Endocrinology for growth hormone therapy
• Nutrition support for feeding difficulties
• Orthopedics for limb asymmetry
• Speech therapy and occupational therapy for developmental support

Prognosis

The prognosis for individuals with Silver–Russell syndrome varies. With appropriate medical care and support, many individuals can lead relatively normal lives, although they may have short stature and other health issues.

See also

• Intrauterine growth restriction
• Postnatal growth retardation
• Triangular face
• Micrognathia
• Clinodactyly
• Hypoglycemia
• Maternal uniparental disomy
• Hypomethylation
• Endocrinology
• Nutrition
• Orthopedics
• Speech therapy
• Occupational therapy