Silver-Russell syndrome

Silver-Russell Syndrome (SRS) Description

Silver-Russell Syndrome, also known as Russell-Silver Syndrome, is a rare genetic condition that affects an individual's growth and development before and after birth. The condition is characterized by slow growth, low birth weight, and failure to gain weight at the expected rate (failure to thrive).

Key Features:

• Slow Growth: Individuals with SRS experience slow growth both before and after birth.
• Low Birth Weight: Babies with this condition

Silver-Russell Syndrome (SRS) Signs and Symptoms

Silver-Russell syndrome, also known as Russell-Silver syndrome, is a rare genetic disorder characterized by poor growth before and after birth. The signs and symptoms of SRS can vary widely from child to child, but some common features include:

• Short stature: Children with SRS are often born smaller than average for their gestational age and may have short stature that worsens as they get older.
• Large head circumference: Babies with SRS typically have a larger head circumference compared to their body size.
• Body asymmetry: Some children with SRS may have body asymmetry, where one side of the body is smaller or less developed than the other.
• Feeding difficulties: Infants with SRS may experience feeding difficulties due to poor appetite and slow weight gain.
• Characteristic facial features: Children with SRS often have a triangular-shaped face, prominent forehead, micrognathia (small jaw), dental crowding, and down-turned corners of the mouth.
• Low birth weight: Babies with SRS are often born with low birth weight.

Additional Features

Other potential features of SRS include:

• Poor appetite
• Clinodactyly (curved little finger)
• Large head in relation to body size
• Body asymmetry

Genetic Causes

SRS is caused by an imbalance in certain active paternal and maternal genes on chromosome 7, which underlies the signs and symptoms of the disorder. In some cases, mutations in other genes such as HMGA2, PLAG1, ICR1, and IGF2 may also contribute to SRS.

References

• [1] Signs of Russell-Silver syndrome vary widely from child to child. The condition can affect many different parts of your child’s body.
• [3] Silver-Russell syndrome is a rare condition associated with poor growth both before and after birth.
• [12] Silver-Russell syndrome is a rare condition associated with poor growth both before and after birth.
• [13] This is typically followed by short stature, characteristic facial features, large head in relation to body size, body asymmetry, and feeding difficulties.

Diagnostic Tests for Silver-Russell Syndrome

Silver-Russell syndrome (SRS) is a rare genetic disorder that can be diagnosed through various clinical and laboratory tests.

• Clinical Examination: A thorough physical examination by a healthcare professional can help identify the characteristic features of SRS, such as intrauterine growth restriction (IUGR), poor growth after birth, and a relatively large head size [7].
• Genetic Testing: Genetic testing is essential for diagnosing SRS. The most common test used is methylation-specific PCR (MS-PCR) to detect methylation errors and abnormal copy number on chromosome 11p15 [3]. If MS-PCR is negative, reflex testing may be performed.
• Blood Tests: Blood tests can help identify low blood sugar levels in some children with SRS. Bone age testing can also be performed to determine the child's bone age, which is often younger than their actual age [2].
• Netchine-Harbison Clinical Scoring System (NH-CSS): The NH-CSS is a sensitive diagnostic scoring system used to assess individuals suspected of having SRS. This system involves evaluating criteria such as small for gestational age (SGA), growth restriction, and other characteristic features [8].
• Genomic Arrays: Genomic arrays can be used to search for upd(7)mat with genomic arrays and chromosome 14 anomalies or other genetic abnormalities that may be associated with SRS [9].

These diagnostic tests can help healthcare professionals accurately diagnose Silver-Russell syndrome and develop an effective treatment plan.

References: [1] Not provided (no relevant information) [2] Context #2 [3] Context #3 [4] Context #4 [5] Not provided (no relevant information) [6] Not provided (no relevant information) [7] Context #7 [8] Context #8 [9] Context #9

Treatment Options for Silver-Russell Syndrome

Silver-Russell syndrome (SRS) is a rare genetic disorder that affects growth and development. While there is no cure for SRS, various treatment options can help manage the condition and improve quality of life.

• Growth Hormone (GH) Treatment: GH replacement therapy has been shown to be effective in improving height gain in children with SRS [3][7]. The recommended starting dose is 0.24 mg/kg/wk, which can be titrated up to 0.48 mg/kg/wk as needed [3].
• Nutritional Support: Ensuring adequate nutrition is crucial for individuals with SRS. This may involve calorie supplementation, appetite stimulation medication, and the use of a gastronomy tube for feeding [8][9].
• Gonadotropin-Releasing Hormone (GnRH) Analogues: Treatment with GnRH analogues can delay progression of central puberty and preserve adult height potential [10].
• Long-term Follow-up: Regular follow-up appointments are essential to monitor the effectiveness of treatment, address any concerns or complications, and adjust treatment plans as needed.

References:

[3] Feb 12, 2024 — GH is given via daily subcutaneous injections. The recommended starting dose is 0.24 mg/kg/wk, but the dose can be titrated up to 0.48 mg/kg/wk, ...

[7] by CCJ Smeets · 2016 · Cited by 63 — Children with SRS have a similar height gain during GH treatment as non-SRS subjects. All (epi)genetic SRS subtypes benefit from GH treatment.

[8] 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 ...

[9] This might include medication to stimulate appetite, the use of a gastronomy tube for feeding, glucose infusions and daily growth hormone injections.

[10] Treatment with gonadotropin-releasing hormone analogues can delay progression of central puberty and preserve adult height potential. Long-term follow up is essential to determine the ...

Silver-Russell syndrome (SRS) is a rare genetic disorder characterized by intrauterine growth restriction, poor postnatal growth, and relatively large head size. When considering the differential diagnosis of SRS, several conditions must be ruled out.

Conditions to Consider:

• Bloom syndrome: A rare autosomal recessive disorder that causes short stature, facial features, and an increased risk of cancer.
• Nijmegen breakage syndrome: A rare genetic disorder characterized by growth retardation, microcephaly, and a high risk of cancer.
• IGF1R mutation or deletion: A condition that affects the insulin-like growth factor 1 receptor, leading to short stature and other growth-related issues.
• Mulibrey nanism: A rare autosomal recess