Silver–Russell syndrome

Silver–Russell syndrome is a congenital growth disorder marked by restricted growth before and after birth, often accompanied by distinctive facial features and body asymmetry.

Genomic imprinting: Genomic imprinting is parent-of-origin-dependent gene expression caused by epigenetic marks. Imprinting defects explain many molecular cases of this syndrome.
Netchine–Harbison Clinical Scoring System: The Netchine–Harbison Clinical Scoring System is a set of six clinical criteria used to assess Silver–Russell syndrome. It organizes the characteristic growth, facial, and body-asymmetry findings used in diagnosis.
Prenatal growth restriction: Prenatal growth restriction is failure of a fetus to reach its expected growth potential. Small size before birth is a central feature of the syndrome.
Henry K. Silver: Henry K. Silver was an American pediatrician who described children with low birth weight, short stature, and asymmetric growth. His 1953 report supplied one half of the syndrome’s name.
Temple syndrome: Temple syndrome is an imprinting disorder associated with prenatal and postnatal growth restriction, hypotonia, and early puberty. It can resemble Silver–Russell syndrome but has a different imprinting pattern and clinical profile.
11p15.5: 11p15.5 is a chromosome 11 region containing imprinted genes that regulate fetal and childhood growth. Loss of methylation at this region is a common molecular cause.
Methylation testing: Methylation testing measures chemical marks on DNA that can affect gene expression without changing its sequence. Testing can detect the common 11p15.5 imprinting abnormality.
Postnatal growth failure: Postnatal growth failure is inadequate growth after birth compared with age-based expectations. Growth often remains restricted after birth despite adequate care.
Alexander Russell: Alexander Russell was a British pediatrician who reported a similar pattern of prenatal and postnatal growth restriction. His 1954 description established the other eponymous account.
3-M syndrome: 3-M syndrome is a rare genetic disorder characterized by severe pre- and postnatal growth restriction and distinctive skeletal features. It causes a similar growth pattern through a different genetic mechanism.

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