Silver–Russell syndrome (SRS)
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.
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).