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Russell-Silver Syndrome (RSS)

Name of disease:

Russell-Silver Syndrome (RSS)

ICD-10 diagnosis code:

Q87.1

Causes:

Russell-Silver Syndrome (RSS) is genetically heterogeneous, meaning that different genetic abnormalities are known to cause the disorder. Abnormalities involving chromosomes 7 or 11 have been found in up to 60% of RSS patients. However, in approximately 40% of patients with a clinical diagnosis of RSS, the underlying cause is still not known.

Pattern of inheritance:

Most cases are sporadic, which means they occur in people with no history of the disorder in their family. Rarely, RSS can run in families. In some affected families, the condition appears to have an autosomal dominant pattern of inheritance. In other families, the condition appears to have an autosomal recessive pattern of inheritance.

Prevalence:

1/30,000 - 1/100,000

Diagnosis:

The diagnosis of RSS is based on clinical findings. Because many of the symptoms are nonspecific, making a diagnosis of RSS remains difficult. Molecular genetic testing can confirm the diagnosis in around 60% of patients. However, genetic testing results are negative ("normal") in a notable proportion of patients with the characteristic features of RSS. Therefore, a negative genetic test result does not exclude the diagnosis of RSS.

Age of onset:

Before birth / newborn babies

Common signs and symptoms:

Poor growth before birth Low birth weight Café au lait macules Feeding difficulties Low blood glucose level Short stature Abnormal curvature of spine Curving of the pinky finger Characteristic facial features (prominent forehead, triangular-shaped face, small jaw, narrow chin, down-turned corners of the mouth) Arms and legs of different lengths Delayed bone maturation Kidney problems Developmental delay Learning disabilities

Available treatments (medicinal and non-medicinal):

Growth hormone therapy may help young patients to speed up the growth and increases the final height. However, the patients may not reach the target height even the invention is early.

Disease management tips:

The management of children with RSS requires an experienced, multidisciplinary approach. Specific issues include growth failure, severe feeding difficulties, gastrointestinal problems, hypoglycaemia, body asymmetry, scoliosis, motor and speech delay。 An early emphasis on adequate nutritional status is important, with awareness that rapid postnatal weight gain might lead to subsequent increased risk of metabolic disorders. Decreasing the quantity of foods high in fat and providing smaller, more frequent meals can help improve delayed gastric emptying. Constipation is also common in RSS and can cause a child to feel full so that they do not want to eat. The benefits of treating patients with RSS with growth hormone include improved body composition, motor development and appetite, reduced risk of hypoglycaemia and increased height. Clinicians should be aware of possible early and rapid central puberty and insulin resistance. 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 natural history and optimal management in adulthood. Since RSS patients are usually slender and short, they may have low self-esteem or an inferiority complex. Appropriate guidance and encouragement from parents and teachers can contribute to their physical and mental development.

References:

https://www.airitilibrary.com/Publication/alDetailedMesh?docid=U0001-2901200719262700 http://www.tfrd.org.tw/tfrd/rare_b/view/id/133 https://medlineplus.gov/genetics/condition/russell-silver-syndrome/#synonyms https://rarediseases.org/rare-diseases/russell-silver-syndrom https://rarediseases.info.nih.gov/diseases/4870/russell-silver-syndrome

Other useful websites

More about the disease:

5P-Societyhttps://www.hkmj.org/abstracts/v22n6/526.htm Patient groups:https://www.facebook.com/groups/235253791055 (Russell-Silver Syndrome Support) https://www.facebook.com/groups/RSS.SGA.Families (A Day in the Life-Russell Silver Syndrome & SGA Families-MAGIC Foundation)）