Silver–Russell syndrome (SRS)

What is it?

Silver-Russell syndrome is a spectrum of abnormalities characterized by intrauterine and postnatal growth retardation, typical external manifestations and, in some cases, body asymmetry.

In particular, relative macroscopes are described associated with: a triangular face, a large and prominent forehead, thin lips turned downward, and a sharp chin. Silver Russell Syndrome is a genetically heterogeneous disease and, for most affected individuals, is a phenotype rather than a specific disease. Therefore, the diagnosis is primarily based on identifying compatible clinical signs. Hypomethylation of the imprinting center at the level of the 11p15.5 region of the paternal chromosome is found in 35-50% of individuals with SRS. In about 10% of cases, maternal single-breed disomy of chromosome 7 is detected. The incidence is estimated at 1–30 per 100,000 cases. Patients with this condition usually have growth retardation, which affects short stature in children and adults. Growth hormone deficiency is not always present. Also described are: feeding difficulties, hypoglycemia and night sweats (mostly in early childhood), skeletal abnormalities (limb mismatch, clinodactyly, syndactyly, camptodactyly), urogenital anomalies, and coffee stains. There may be a slight delay in cognitive development.

How is it diagnosed?

The diagnostic suspicion is substantially clinical, based on the anamnestic history and a careful physical examination, especially considering the growth disorder. It is possible to carry out genetic analysis by searching for the aforementioned alterations.

Suggested exams

How is it treated?

Children with Silver Russell Syndrome can be treated with biosynthetic growth hormone to improve the prognosis; this treatment is possible if there is a classic hormonal deficit or if the patient meets the criteria of the AIFA note 39 as a hyposomic child born small for gestational age. Children with body asymmetry can undergo corrective orthopedic surgery of the lower limb discrepancy, by lengthening the hypoplastic limb or augmentation block of the longer limb. A multidisciplinary follow-up is certainly necessary (urologist, physiatrist, nutritionist, dentist).

Where do we treat it?

Within the San Donato Group, you can find Silver–Russell syndrome (SRS) specialists at these departments:

Are you interested in receiving the treatment?

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