Silver-Russell syndrome

The average height for people with this rare condition is 142 cm in women and 150 cm in men. The condition is thought to have an incidence of between 1 in 75,000 to 1 in 100,000 people.

Cause

Silver-Russell syndrome may be caused by a genetic problem, but in many cases the exact cause is unknown. 

Signs and Symptoms

• Small at birth. 
• Slender (almost fragile) stature.
• Crooked spine.
• Asymmetrical limbs: the arm and leg on one side of the body are longer than the arm and leg on the other side.
• Little fingers are bent inward.
• Large head: head is relatively large compared to the rest of the body.
• Triangular face with a large forehead and a small mouth and lower jaw.
• Low set ears. 
• Feeding problems: in the first year the main problem is that babies spit out or bring their milk back up (reflux).
• Low blood sugar (hypoglycemia) – which makes the child low in energy and causes other problems such as fainting.
• Slower development of fine and gross motor skills.
• Slower speech development.
• Learning problems: even though intelligence is normal, children may have problems learning.

Treatment

Children with Silver-Russell syndrome may be treated with enteral feeding, which may be needed together with growth hormone.