Silver Russel Syndrome

Original Editor - Mohamed A Hassanin Top Contributors - Mohamed A Hassanin, Kim Jackson, Mahbubur Rahman and Memoona Awan

Pathological Process

Silver -Russell Syndrome (SRS) a rare growth disorder that usually begins before birth, with affected babies being smaller than expected for their gestational age. It is a genetically diverse (heterogeneous) condition, meaning it can be caused by different types of genetic changes. While a clinical diagnosis can be made based on physical features and growth patterns, genetic testing confirms the diagnosis in about 60% of cases.However, about 30% to 40% of individuals do not show any detectable genetic or chromosomal abnormalities with current testing methods, even when they meet the clinical criteria for SRS.

SRS Clinical Presentation

Diagnostic Procedures

1st: Clinical Diagnosis

Many features can be noticed clinically on patients

1. Relative macrocephaly at birth (head circumference ≥1.5 standard deviations [SD] above birth weight and/or length).
2. Prominent forehead with frontal bossing.
3. Frequent body asymmetry.
4. Postnatal growth failure.
5. Progressive limb length discrepancy.
6. Feeding difficulties.
7. Triangular facies.
8. Fifth finger clinodactyly.
9. Micrognathia with narrow chin.

The Netchine-Harbison Clinical Scoring System (NH-CSS) is a highly sensitive tool used for SRS diagnosis. A clinical diagnosis can be made when a person meets at least four of the NH-CSS criteria—specifically, having a prominent forehead or frontal bossing and relative macrocephaly at birth, along with at least two other clinical signs—provided that other possible conditions have been excluded.

2nd: Molecular diagnosis

The most common genetic causes include:

• Hypomethylation of a region on chromosome 11p15.5 (specifically the ICR1 region), found in 35% to 67% of affected individuals.
• Maternal uniparental disomy of chromosome 7 (upd(7)mat), which means both copies of chromosome 7 come from the mother. This occurs in about 7% to 10% of cases.
• SRS may have duplications, deletions, or chromosome rearrangements involving either chromosome 11p15.5 or chromosome 7.

Health Problems

Pediatric population diagnosed with SRS may suffer from the following:

1. Delayed growth and puberty abnormal development.
2. Delayed gross and fine motor skills.
3. Hypoglycaemia and poor nutrition.
4. Musculoskeletal deformation e.g. prominent forehead, leg length discrepancy, scoliosis and finger clinodactyly.
5. Oral abnormalities e.g. cleft palate, high arched palate, microdontia, overbite and dental crowding.
6. Genitourinary and cardiac manifestations may occur.

Management / Interventions

Health care team Management:

• Growth Hormone Therapy.
• Nutritional supplements and Appetizers.
• Frequent feeding, avoidance of prolonged fasting between feeds (≤4 hours in infants).
• Bracing and shoe lifting may be described for spinal deformities and leg discrepancies.
• Orthodontia & maxillofacial surgery may be needed.

Relevance to Physical Therapy

Physical Therapists may deal with SRS children in many health-care systems and they usually execute treatment plan for:

1. Abnormal gross motor delay.
2. Orthotic prescription for skeletal deformities.
3. Recommending assistive devices to help independence.
4. Work with Occupational Therapy for fine motor function.
5. Support speech and nutrition therapy roles.

Resources

• Guideline for emergency services and Inpatient care teams
• Physician concerns during SRS patients transition to adulthood
• Magic foundation- Russel Silver syndrome
• Medical professionals can request a free copy of RSS/SGA Guidebook by emailing: [email protected]