Silver-Russell syndrome due to 11p15 microduplication

Silver-Russell syndrome due to 11p15 microduplication (also known as Silver-Russell syndrome due to 11p15 maternal duplication) is a rare genetic imprinting disorder that represents one of the molecular subtypes of Silver-Russell syndrome (SRS). It is caused by a microduplication of the 11p15 chromosomal region on the maternally inherited chromosome, leading to overexpression of maternally expressed imprinted genes (such as CDKN1C and H19) and/or reduced expression of paternally expressed genes (such as IGF2) in this critical growth-regulatory region. This imbalance disrupts normal fetal and postnatal growth regulation. The condition is characterized by severe intrauterine growth restriction (IUGR), low birth weight, postnatal growth failure with short stature, relative macrocephaly at birth, a prominent forehead, a triangular face, body asymmetry (limb length discrepancy), feeding difficulties in infancy, and fifth finger clinodactyly. Affected children often have poor appetite and may experience hypoglycemia, particularly in early childhood. Cognitive development is generally normal, though some children may experience mild developmental delays, particularly in speech and motor skills. Management is multidisciplinary and focuses on optimizing growth and nutrition. Growth hormone therapy is an established treatment that can significantly improve final adult height and is approved for use in Silver-Russell syndrome in many countries. Nutritional support is critical in early life to prevent hypoglycemia and failure to thrive, though excessive caloric supplementation should be avoided due to the risk of later metabolic complications. Monitoring for body asymmetry, scoliosis, and metabolic issues including insulin resistance is recommended throughout childhood and adolescence. Genetic counseling is important for affected families to understand recurrence risks.

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