• Silver syndrome; dwarfism - Silver-Russell type.

INCIDENCE

• There is a lack of information regarding the prevalence of this syndrome; however, cases have been documented from a great deal of the world.

• It would appear that people of all racial and ethnic backgrounds, as well as both boys and girls, are susceptible to the disease. (However, there has been documented an X-linked form of the Silver syndrome, which has identical symptoms, but which, due to the method of inheritance, only affects boys.)

HISTORY

• In the 1950s, Dr. Silver and Dr. Russell both provided their own description of this syndrome.

• 1964 saw the publication of additional research pertaining to particular elements of the disease.

CAUSATION

• At the moment, it is not entirely clear how inheritance works.

• It has been hypothesized that either a dominant inheritance with incomplete penetrance or an autosomal recessive inheritance could be responsible for the condition.

• It has been hypothesized that placental insufficiency may play a role in the chain of events that led to the development of this condition.

• This insufficient functioning of the placenta may in and of itself be a trait that is passed down from generation to generation.

CHARACTERISTICS

• Newborns affected with Silver-Russell syndrome are born at a smaller size than average compared to other babies.

• The progression of a child's height and weight along the normal growth lines, but at or below the third centile on the growth charts, is typical throughout childhood.

• It is highly unusual for youngsters to experience a "catch-up" growth spurt around the time they reach puberty.

• This means that their final adult height will be closer to the average than it would have been otherwise.

• There is an asymmetry present, which may involve either one whole half of the child's body or a specific section, such as a leg or a portion of the head, for example.

• The degree to which children are dissymmetrical differs widely from one another.

• This element of the illness is frequently not observed at the time of birth or throughout the first few months of a person's existence.

• The peculiar development is not recognized until much later, when the pace of growth has already accelerated significantly.

• The Silver-Russell syndrome is characterized by atypically advanced sexual development, which is most often observed in female patients.

• The growth of breasts, the onset of menstruation, and the dispersion of adult hair can all occur in younger children than is typically the case.

• These side effects occur concurrently with increased levels of gonadotrophins in both the blood and the urine.

• Children that have Silver-Russell syndrome also have a distinct head shape.

• This is one of the most easily recognizable features of the condition.

• This creates the impression of a face in the shape of a triangle since the foreheads are broad and gradually narrow down to a pointed chin.

• A additional characteristic that is of relevance is that the anterior fontanelle typically closes at a later stage than is typical for it.

• The hands of children who have Silver-Russell syndrome are identifiable by the fact that they typically have a little finger that is turned inward (compare this to children who have Down syndrome).

• Webbing can appear between the second and third toes in particular, which is one example of a minor abnormality that can occur in the toes.

• Patches that look like cafe-au-lait are common among people who have neurofibromatosis. These spots can appear anywhere on the body.

• These can range in size from freckle-like lesions to pigmented patches that are more than 30 em in diameter.

• Some of these lesions are only the size of a little freckle.

• It has been observed that children who have this syndrome tend to sweat a lot more than other children.

• The final three symptoms, which can express themselves in the head, fingers, or skin, are all examples of various manifestations of Silver-Russell syndrome.

• Consistent findings include the individual's short stature, asymmetry of sections of the body, tiny size at birth, and early onset of sexual development.

• All of these characteristics come together to form the short stature.

• However, the addition of these extra variable aspects is beneficial when trying to make a diagnosis.

MANAGEMENT IMPLICATIONS

• There are two facets of the Silver-Russell syndrome that, when present in childhood, may necessitate the provision of specialized assistance.

  • Having a low stature and a probable asymmetry of the skeleton can present challenges for a person when they are in school.

  • In most cases, the child's small stature is not so severe that they will require specialized equipment, as is the case with children who have achondroplasia.

  • If the asymmetry of the body is extreme and affects a significant area of the body, it may be necessary to correct it using orthotic devices, such as specialized shoes, in order to facilitate regular movement.

  • The child will benefit much from physiotherapy since it will teach him or her how to use the appropriate muscles correctly to balance his or her asymmetry.

• Both the youngster and their parents could feel uneasy about the early onset of puberty.

• The youngster will have an easier time coming to terms with her atypical sexual development if she is provided with sensitive explanations as well as practical assistance at school to deal with the day-to-day complications of menstruation.

• Being unique in the upper junior school can be a challenging and isolating experience for students.

THE FUTURE

• Because of this component of Silver-Russell syndrome, a person's job options may be restricted, and the degree to which movement is impaired will be strongly influenced by both the location and severity of the skeletal asymmetry.

• People who have this syndrome can anticipate a lifetime similar to that of the general population.