About Marshall-Smith Syndrome ("MSS")

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There is no cure for Marshall-Smith Syndrome. Treatment is targeted toward specific symptoms and supportive care is given to ensure comfort and good quality of life. This will look different for each individual, and it is important for there to be a team approach between families, caregivers, and medical providers. 

Early in life, children with MSS can spend a lot of time in the hospital. Newborns may need several weeks or months of care in the Neonatal Intensive Care Unit (NICU) until they are stable enough to go home. Readmission to the hospital is common for the first few years, usually for respiratory illness or feeding problems. Over time, the most significant and acute medical issues are controlled, and hospital admissions become shorter and farther apart.

In addition to primary care, management of the various complex medical needs of a person with MSS requires regular care from specialized doctors. As mentioned before, not every person with MSS has the same clinical presentation. Over the course of their lifetime, certain medical issues may appear, change, or improve, so specialties and frequency of visits will vary. 

Some common medical specialties that a person with MSS may need include: audiology, cardiology, endocrinology, genetics, gastroenterology, neurology/neurosurgery, ophthalmology, orthopedic surgery, otolaryngology (ear, nose & throat/ENT), pulmonology, rehabilitation, and urology.

Many hospitals offer multi-disciplinary clinics that combine some of these specialties into one appointment, which is easier on the patient and caregivers. This approach also allows for better communication between physicians. Aerodigestive teams usually include a lung doctor, GI doctor, ENT doctor, and speech-language pathologist. Craniofacial teams may include a neurosurgeon, ENT doctor, plastic surgeon, oral surgeon, dentist, orthodontist, audiologist, and speech-language pathologist.

Treating a condition as complex as Marshall-Smith Syndrome usually requires use of medical devices. For respiratory support, a nasopharyngeal or trach tube, ventilator, or CPAP/BiPAP machine may be necessary. Most have a pulse oximeter to monitor oxygen levels, a suction machine to clear secretions from the airway, and supplemental oxygen to administer as needed. Ear tubes can be placed for frequent ear infections and hearing aids fitted for hearing loss. Feeding tubes, whether temporary or permanent, are almost always needed. It is common for a person with MSS to wear glasses to correct vision impairment, though unique facial structure can make this a bit of a challenge. A few children have shunts to treat hydrocephalus. For orthopedic issues, custom orthoses can help support weak ankles or slow the progression of scoliosis. Adaptive equipment such as wheelchairs, walkers, gait trainers, standing frames, communication devices, bathing chairs, and specialized seating are available and can be very helpful tools in development.

It should be expected that an individual with MSS will have many surgeries over the course of their lifetime. Surgeries can range from non-invasive procedures to examine the airway with a tiny camera, all the way to complete spinal fusions to correct severe scoliosis. It is important for parents and caregivers to have good communication with doctors so that all surgical decisions are fully understood. It is also sometimes helpful to ask the parents or caregivers of other people with MSS about their experiences with certain surgeries. Most will agree that children and adults with MSS are “tough” and quickly bounce back to their happy selves.