Marshall-Smith Syndrome Health Article

Diagnosis

Because there is no genetic testing available for Marshall-Smith syndrome, all individuals have been diagnosed through a careful physical examination and study of their medical history.

Advanced skeletal age can be seen on x rays of the patient's hands and wrists, since this is the typical way to assess bone age. A full x ray survey of the body is a good way to assess age of other bones as well. Advanced bone age is always seen in Marshall-Smith syndrome, but it may also be present in other genetic syndromes. Sotos syndrome involves similar skeletal findings, but individuals are generally larger than usual and can have mental delays. Weaver syndrome includes advanced skeletal maturation, but individuals are often larger than usual and have other specific facial characteristics (such as very narrow, small eyes). These and other conditions can be ruled out if the respiratory complications and facial characteristics seen in MSS are not present.

Treatment and management

As mentioned earlier, long hospitalizations are common for people with MSS. Most of these involve treating severe respiratory complications of MSS. These types of complications often necessitate placing a tracheotomy to assist with breathing. Manual removal of the mucus buildup by suctioning near the tracheotomy is common. Frequent pneumonia is common, and intravenous antibiotics are often 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, and sometimes a gastrostomy is the only way to achieve this.

Prognosis

Marshall-Smith syndrome is considered a childhood condition because affected individuals do not typically survive past childhood. There is no long-term research on the disease due to it being rare and not typically present in adults.

Most children with MSS die in early infancy, often 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. These children give hope that the condition is variable, and not every person diagnosed with the condition will have a severely shortened life span.

ORGANIZATIONS

Arc (a National Organization on Mental Retardation). 1010 Wayne Ave., Suite 650, Silver Spring, MD 20910. (800) 433-5255. Fax: (301) 565-5342, Info@thearc.org, <http://www.thearclink.org>.

Human Growth Foundation. 997 Glen Cove Ave., Glen Head, NY 11545. (800) 451-6434 or (516) 671-4041. Fax: (516) 671-4055. hgfound@erols.com. <http://www.hgf1@hgfound.org>.

Little People of America, Inc. National Headquarters, PO Box 745, Lubbock, TX 79408, Phone: (806) 737-8186 or (888) LPA-2001. Fax: (806) 797-8830, lpadatabase@juno.com, <http://www.lpaonline.org>.

Little People's Research Fund, Inc. 80 Sister Pierre Dr., Towson, MD 21204-7534. (800) 232-5773 or (410) 494-0055, Fax: (410) 494-0062. <http://pixelscapes.com/lprf>.

MAGIC Foundation for Children's Growth. 1327 N. Harlem Ave., Oak Park, IL 60302. (800) 362-4423 or (708) 383-0808. Fax: (708) 383-0899. mary@magicfoundation.org. <http://www.magicfoundation.org>.

WEBSITES

"Marshall-Smith syndrome." Health Library. <http://hvlib.integris-health.com/Library/HealthGuide/IllnessConditions>.

Deepti Babu, MS, CGC