Overview
Russell Silver Syndrome (RSS) is an uncommon condition characterized by fetal growth retardation and postnatal growth deficit, in addition to a variety of other physical traits and symptoms. The frequency is unclear, however it is thought to be between 1 in every 30,000 and 100,000 births.
The broad range of phenotypic results varies in incidence rate and severity amongst individuals. In addition to prenatal and postnatal growth retardation, the most common characteristics are a normal head circumference (appearing large for the body) at BIRTH, a large forehead that protrudes from the plane of the face, a triangular-shaped face, a pinky that is shaped in a curved position (clinodactyly), a lack of appetite/low BMI, and undergrowth of one side or limb(s) of the body (hemihypotrophy).
Depending on the child’s genetic etiology, the majority of children with RSS have normal intellect, but are more likely to suffer motor and speech difficulties. It is essential to intervene at an early age (infancy). RSS is genetically heterogeneous, meaning that it is considered to be caused by a variety of genetic disorders. In 60-70 percent of RSS/SRS patients, abnormalities affecting particular genes on chromosomes 7 or 11 have been identified; however, in 30-40 percent of patients, the underlying cause of RSS is unknown and the patient must be clinically evaluated.
Signs and symptoms
Although proof of a certain genetic marker exists in a substantial proportion of individuals, there are no tests that can definitively verify whether a person possesses this marker. Typically, a syndrome is diagnosed in children following confirmation of the presence of multiple of the symptoms described below.
Intrauterine growth restriction (IUGR) paired with any of the following are symptoms:
- Frequently born small for gestational age (SGA) (birth weight less than 2.8 kg)
- Problems with feeding: the infant is disinterested in feeding and eats only little quantities with difficulty.
- Hypoglycemia
- Excessive perspiration as an infant, particularly at night, and a grayish or pale complexion. This might be a sign of hypoglycemia.
- Triangular face with a tiny jaw and a chin that tends to become less pointed with age. The mouth has a downward tendency.
- A bluish tint to the whites of younger children’s eyes
- A normal head circumference may be disproportionate to a tiny body size
- Wide and late-closing fontanelle
- Clinodactyly
- Asymmetry of the body: one side develops more slowly than the other
- Poor growth persists with no “catch up” to the normal centile lines on the growth chart.
- Premature puberty (occasionally)
- Weak muscular tone
- Reflux gastroesophageal disease
- A remarkable absence of subcutaneous fat
- Chronic constipation (sometimes severe)
Without growth hormone therapy, the average adult male height is 4’11” and the average adult female height is 4’7″.
Diagnosis
Russell-Silver syndrome can be difficult to diagnose due to the condition’s variable symptoms and severity. However, your infant will normally get a physical checkup by a healthcare professional. Additionally, they will want molecular genetic testing. In around 60% of instances, genetic testing can confirm the diagnosis.
Treatment
RSS is innate from birth. The first few years of a child’s existence are crucial to their growth. RSS is treated by addressing its symptoms so that the kid can develop as normally as possible.
The following treatments aid in growth and development:
- A dietary plan specifying snack and meal times
- Hormone injections for growth
- Release of luteinizing hormone therapies (a hormone released in females to trigger monthly ovulation
The following treatments are used to repair and accommodate limb asymmetry:
- Shoe wedges (inserts used to slightly raise one heel)
- Corrective operation
The following treatments promote mental and social development:
- Speech pathology
- Physical treatment
- Language treatment
- Programs for early development intervention
For more info, visit: https://silverrussellsyndrome.org/
For more pediatric diseases, visit: Pediatrics – Costamedic
