Silver-Russell syndrome

Silver Russel syndrome is a combination of intrauterine incipient dwarfism, facial dysmorphism, and body asymmetry. Since the patients have little subcultured body weight, the weight is usually more reduced than the body size.

The bone age corresponds to delayed maturation of the respective body size. In some cases, the Fontanelle closes late. Contrary to the rest of the body, the head circumference develops normally according to age, which mistakenly suggests a hydrocephalus.

Characteristic anomalies are a broad, bulging forehead on a small, triangular face with a small, pointed chin. The wide mouth has pulled down corners of the mouth, and narrow lips. The eyes are conspicuously large and have blue scleras.

The limbs are in most cases lateral, usually only partial, not progressive asymmetric. Often the small finger is shortened or there is a clinodactyly. Slight mental retardation is rare, but some patients have difficulty acquiring motor skills.

Forty percent of all suffer from a methylation disorder of chromosome 11, with 15% subject to material uniparental disomy 7.