Detailed Information on Marshall-Smith Syndrome

 Marshall-Smith syndrome is very rare in the general population. It shows to be present across the world, affecting males and females equally. Marshall-Smith Syndrome is characterized by unusual hastened skeletal maturation (usually starting before birth) and symptoms like conspicuous physical characteristics, respiratory difficulties, and mental retardation. Ear infections are common, because the bacteria can spread to the ears as well. Internal nasal passages may be narrower in people with MSS, which can also pose difficulty with breathing.

Children with MSS may have harms with eating, due to likely reasons that they may have difficulty breathing. Additionally, they may have a weak "suck" and "swallowing" reflex, normally controlled by muscular movements. Facial characteristics of people with MSS include those mentioned earlier, but other features may also occasionally be present. These can be blue-tinged sclerae (the white sections of the eyes), a large head circumference (measurement around the head), and a small, triangle-shaped face (with the point of the triangle being at the chin).

Occasionally, creases in the hands are "deeper" than usual in people with MSS. The first toe can also be longer and bigger than usual. Additional features comprise hirsuitism and an umbilical hernia. Hearing loss can sometimes occur. Most children with MSS die in early infancy, frequently by three years of age, largely due to severe respiratory complications, and infections that may result from them. There have been reports of children surviving until age seven oreight, but these children did not have severe respiratory problems. Treatment of Marshall-Smith syndrome is often necessitates placing a tracheotomy to help with breathing.

Manual removal of the mucus buildup by suctioning near the tracheotomy is common. Frequent pneumonia is common, and intravenous antibiotics are frequently the treatment, as in people without MSS. There is no specific treatment for the advanced bone age. Because feeding can be difficult for children with MSS, a gastrostomy is often needed, and feeding is done directly through the gastrostomy tube. It is a challenge to make sure children with MSS maintain proper growth.