Shwachman-Diamond syndrome

Shwachman-Diamond syndrome (SDS) is a rare, inherited bone marrow failure syndrome. It is named after two of the Boston Children’s Hospital physicians (Dr. Harry Shwachman and Dr. Louis Diamond) who first discovered the disease in the 1960s.

SDS is frequently characterized by poor growth due to difficulty absorbing food, as well as by a low number of white blood cells (or other blood cells) and, in some cases, skeletal abnormalities. Children with SDS have a small but significant chance of developing blood disorders like myelodysplasia and leukemia.

 Here are some additional facts about SDS:

• It occurs in about 1 in every 77,000 births.
   
• SDS is passed from parents to their child through two defective genes, one from each parent; this type of inheritance is called recessive. In most cases, parents carrying the gene do not show any signs of SDS themselves.
   
• In 90 percent of cases, genetic testing performed here at Dana-Farber/Children’s Hospital Cancer Center and other laboratories can identify the mutations in the gene responsible for SDS.
   
• Children with SDS are at a higher risk of developing infections due to a decrease in their number of neutrophils, one of the types of white blood cell.
   
• 50 to 75 percent of children with SDS have skeletal abnormalities, including growth plate changes, rib cage abnormalities and loss of bone density.
   
• After cystic fibrosis, SDS is the next most common cause of pancreatic digestive enzyme or exocrine pancreatic insufficiency.
   
• The poor growth experienced by children with SDS, along with the major gastrointestinal symptom the disorder causes—diarrhea—can be treated with pancreatic enzyme replacement and vitamin supplementation.

How Dana-Farber/Children’s Hospital Cancer Center approaches Shwachman-Diamond syndrome

Here at Dana-Farber/Children’s Hospital Cancer Center (DF/CHCC), our integrated pediatric hematology and oncology service offers—in one specialized program—the combined expertise of a leading cancer and blood disorders center and a premier children’s hospital.

Our Fanconi Anemia and Bone Marrow Failure Multidisciplinary Clinic provides expert, multidisciplinary and compassionate treatment for children of all ages with SDS and other types of bone marrow failure, including the rarest and most complex cases. This means that all the pediatric subspecialists  needed to treat your child are available in one place.

Above all, we recognize that your child is an individual (never “just a patient”), and we’re here to help you and your family at every step along the way.

Shwachman-Diamond syndrome: Reviewed by Colin Sieff, MB, BCh and David A. Williams, MD
© Dana-Farber/Children’s Hospital Cancer Center; posted in 2012