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 the respective body size due to delayed maturation. In some cases the fontanelle closes first. In contrast to the rest of the body, the head circumference develops normally according to age, which may erroneously lead to suspicion of hydrocephalus

Characteristic anomalies are a broad, predisposed 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 extremely 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. & Nbsp;

40% of all affected individuals have a methylation disorder of chromosome 11, with 15% subject to material uniparental disomy 7.