Russell-Silver syndrome is a disorder present at birth involving poor growth. One side of the body also will appear to be larger than the other.
- Causes:
Up to 10% of patients with this syndrome have a defect involving chromosome 7. In other patients, there the syndrome may affect chromosome 11, 15, 17, or 18.
Researchers suspect that at least one third of all cases of Russell-Silver syndrome result from changes in a process called methylation.
Methylation is a chemical reaction that attaches small molecules called methyl groups to certain segments of DNA.
In most patients, the cause is unknown. Most cases occur in people with no family history of the disease.
- Incidence:
The estimated number of people who develop this condition varies greatly. Some say it affects about 1 in 3,000 people. Other reports say it affects 1 in 100,000 people. Males and females are equally affected.
- Symptoms:
Body asymmetry
Coffee-with-milk (cafe-au-lait) birth marks
Curving of the pinky toward the ring finger
Delayed bone age
Failure to thrive
Gastroesophageal reflux disease
Kidney problems, such as:
Horseshoe kidney
Hydronephrosis
Posterior urethral valves
Renal tubular acidosis
Low birth weight
Large head for body size
Poor growth
Short arms
Short height (stature)
Short, stubby fingers and toes
Delayed stomach emptying, and constipation
Wide forehead with a small triangle-shaped face and small, narrow chin
- Signs:
Triangular shaped face in Russell-Silver syndrome patient
Pointed chin that is not fully developed
Thin, wide mouth
Triangle-shaped face with broad forehead
- Tests:
There are no specific laboratory tests to diagnose Russell-Silver syndrome.
Diagnosis is usually based on the judgment of your child’s pediatrician.
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)
- Growth Hormone (some children may have a deficiency)
- Skeletal Survey (to rule out other conditions that may mimic Russell-Silver syndrome)
- Treatment:
- Growth hormone replacement may help if this hormone is lacking.
- Making sure the person gets enough calories, to prevent low blood sugar and promote growth
- Physical therapy, to improve muscle tone
- Special education, to address learning disabilities and attention deficit problems the child may have
- 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.
- Complications:
- Chewing or speaking difficulty if jaw is very small
- Learning disabilities
------------------------------
This Article has been Authored By :: World Of Dentistry :: TEAM
For any questions and Suggestions please don't be hesitate to feedback us.
Yours,
:: World Of Dentistry :: TEAM
- Causes:
Up to 10% of patients with this syndrome have a defect involving chromosome 7. In other patients, there the syndrome may affect chromosome 11, 15, 17, or 18.
Researchers suspect that at least one third of all cases of Russell-Silver syndrome result from changes in a process called methylation.
Methylation is a chemical reaction that attaches small molecules called methyl groups to certain segments of DNA.
In most patients, the cause is unknown. Most cases occur in people with no family history of the disease.
- Incidence:
The estimated number of people who develop this condition varies greatly. Some say it affects about 1 in 3,000 people. Other reports say it affects 1 in 100,000 people. Males and females are equally affected.
- Symptoms:
Body asymmetry
Coffee-with-milk (cafe-au-lait) birth marks
Curving of the pinky toward the ring finger
Delayed bone age
Failure to thrive
Gastroesophageal reflux disease
Kidney problems, such as:
Horseshoe kidney
Hydronephrosis
Posterior urethral valves
Renal tubular acidosis
Low birth weight
Large head for body size
Poor growth
Short arms
Short height (stature)
Short, stubby fingers and toes
Delayed stomach emptying, and constipation
Wide forehead with a small triangle-shaped face and small, narrow chin
- Signs:
Triangular shaped face in Russell-Silver syndrome patient
Pointed chin that is not fully developed
Thin, wide mouth
Triangle-shaped face with broad forehead
- Tests:
There are no specific laboratory tests to diagnose Russell-Silver syndrome.
Diagnosis is usually based on the judgment of your child’s pediatrician.
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)
- Growth Hormone (some children may have a deficiency)
- Skeletal Survey (to rule out other conditions that may mimic Russell-Silver syndrome)
- Treatment:
- Growth hormone replacement may help if this hormone is lacking.
- Making sure the person gets enough calories, to prevent low blood sugar and promote growth
- Physical therapy, to improve muscle tone
- Special education, to address learning disabilities and attention deficit problems the child may have
- 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.
- Complications:
- Chewing or speaking difficulty if jaw is very small
- Learning disabilities
------------------------------
This Article has been Authored By :: World Of Dentistry :: TEAM
For any questions and Suggestions please don't be hesitate to feedback us.
Yours,
:: World Of Dentistry :: TEAM
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