Isabella's Big Dreams

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Russell Silver Syndrome

The estimated number of people who develop this condition varies greatly. 

Some say it affects about 1 in 50,000 people, Other reports say it affects 1 in 175,000 people.

Children born with Russell-Silver syndrome have difficulty feeding and growing. 

They have distinctive facial features and may have asymmetric limbs. 

Although adolescents and adults with Russell-Silver syndrome will be shorter than average, the syndrome does not significantly affect life expectancy.

The cause of Russell-Silver syndrome is unknown. 

Many cases occur in families with no history of the disorder. 

A genetic defect in chromosome 7 has been identified in about 10% of individuals. 

Russell-Silver syndrome affects both males and females and people of all ethnic background


Failure to grow is the primary symptom of Russell-Silver syndrome. 

Other symptoms include:

  • Low birth weight

  • Feeding problems
  • Distinctive facial features which include a small triangular face (a high forehead that tapers to a small jaw), prominent nasal bridge, and down-turning corners of the mouth

  • A normal-sized head but because the body is small, the head looks large in comparison.

  • Overgrowth of one side of the body, resulting in asymmetry of arms and/or legs.

  • Defects of fingers and toes, such as curving in or fusion.

  • Sweating, Babies sweat a lot especially at night. In some children this is a sign of low blood sugar (Hypoglycaemia)


In general, the most noticeable symptom of Russell-Silver syndrome is a child’s failure to grow, and this may suggest the diagnosis. 

The infant is born small and does not achieve normal lengths/heights for his/her age. 

The distinctive facial features may be identified in infants and children, but may be harder to recognize in teenagers and adults. 

Genetic testing can be done to rule out other genetic disorders that may have similar symptoms.

There are no specific laboratory tests to diagnose Russell-Silver syndrome. 

Diagnosis is usually based on the judgement of your child's paediatrician. 

However, the following tests may be done:

  • Blood sugar (some children may have low blood glucose)

  • Bone age testing (bone age is often younger than the child's actual age)

  • Chromosome testing (may detect a chromosomal problem...Mupd7 or 11p15)

  • Growth hormone (some children may have a deficiency)

  • Skeletal survey


Because children with Russell-Silver syndrome have difficulty consuming enough calories for growth, 

parents can learn how to optimize calorie intake, and special high-calorie formulas may be given. 

A feeding tube may be necessary to help the child achieve optimal nutrition. 

Growth hormone therapy will help the child grow more, but he or she will still be shorter than average. 

Early intervention programs for young children are helpful, since some children with Russell-Silver syndrome will have difficulty with language and maths skills. 

Physical and occupational therapy are also helpful to promote physical development.  

Growth hormone replacement may help if this hormone is lacking. 

Other treatments include:

  • Making sure the person gets enough calories, to prevent low blood sugar and promote growth (Dietician) 

Physical therapy, to improve muscle tone

Many specialists may be involved in treating this condition:

  • A doctor specializing in genetics can help diagnose Russell-Silver syndrome.

  • An endocrinologist may prescribe growth hormone, if it is needed.

Orthopaedic surgeons may be involved to assess asymmetry and provide an instep for the child’s shoe to prevent secondary scoliosis

Expectations (prognosis)

Older children and adults do not show typical features as clearly as infants or younger children. 

Intelligence may be normal, although the patient may have a learning disability.


Chewing or speaking difficulties if the jaw is too small

Learning difficulties

Motor impairment 

Low muscle tone 

Feeding difficulties