KidsMD Health Topics

Shwachman-Diamond Syndrome

  • Children with Shwachman-Diamond syndrome (SDS) are treated through our at our Bone Marrow Failure Program at Dana-Farber/Boston Children's Cancer and Blood Disorders Center, an integrated pediatric hematology and oncology partnership between Dana-Farber Cancer Institute and Boston Children’s Hospital.

    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 by Dana-Farber/Boston Children's 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  and vitamin supplementation.

    How Dana-Farber/Boston Children’s approaches Shwachman-Diamond syndrome

    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 Bone Marrow Failure Program 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/Boston Children’s Cancer and Blood Disorders Center; posted in 2012

  • What is Shwachman-Diamond syndrome? 

    Shwachman-Diamond syndrome (SDS) is an inherited disease that affects several systems in a child’s body, including his bone marrow, pancreas and skeleton. Occasionally, other organs, such as the liver and teeth, are also involved.

    Is SDS common?

    No; in fact, it is quite rare, with an estimated incidence of 1 in every 77,000 births.

    Who does SDS affect?

    Shwachman-Diamond syndrome occurs more frequently in boys than girls (about 1.7 boys for every girl), and has been reported in all ethnic groups. 

    What complications does SDS cause?

    SDS affects different children in different ways. Complications often include the following:

    • Pancreatic insufficiency results in a failure to produce enough of the enzymes required to properly digest food. That is why many children with SDS have persistent greasy and foul-smelling diarrhea and poor growth during their first years of life.
       
    • The most common blood abnormality associated with SDS is a low number of the white blood cell type called neutrophils, which are crucial for fighting bacterial infections. As a result, patients are at increased risk of infection.
       
    • Children with SDS may also be anemic due to a decreased production of red cells and low platelets (cells that are needed to form normal blood clots). They are slightly more likely to develop blood cancers such as myelodysplasia or leukemia.

    If my child has SDS, what is the likelihood my other children will also have it? Do they need to be tested right away, even if they are not showing any symptoms?

    If you or your child’s other parent are carriers of the gene for SDS (this is referred to as being a heterozygote), your other children have a 1 in 4 chance of having the disorder.

    Since new gene mutations can sometimes arise, it is important to test both parents in order to evaluate the risk of having another affected child. In most cases, all other immediate members of a family are tested, even if they do not show any symptoms of SDS.

    Causes

    What causes Shwachman-Diamond syndrome?

    90 percent of the time, SDS is caused by a mutation in a gene known as SBDS. Shwachman-Diamond syndrome is a recessively inherited disorder, meaning that a child must inherit two defective copies of the gene (one from each parent) to develop the disease.

    The remaining 10 percent of children with Shwachman-Diamond syndrome have a normal SBDS gene, but develop the disease anyway. We believe that an as-yet-unidentified gene is involved in these cases.

    Signs and symptoms 

    What are the symptoms of SDS?

    Symptoms can vary greatly from child to child. The most common symptoms are chronic, often greasy diarrhea, frequent infections due to low white blood cells and poor growth.

    Other signs can include:

  • How is Shwachman-Diamond syndrome usually diagnosed?

    SDS can be identified with the following tests:

    • bloodwork to evaluate a child’s white blood cells, red blood cells and platelets, as well as the functioning of her kidney, liver and pancreas
    • pancreatic stimulation testing
    • stool collection
    • skeletal survey (which evaluates the bones)
    • a full bone marrow exam in which samples of the fluid (aspiration) and solid (biopsy) portions of bone marrow are withdrawn with a needle under anesthesia
    • in some cases, genetic testing
  • Children with Shwachman-Diamond syndrome (SDS) are treated through our at our Bone Marrow Failure Program at Dana-Farber/Boston Children's Cancer and Blood Disorders Center, an integrated pediatric hematology and oncology partnership between Dana-Farber Cancer Institute and Boston Children’s Hospital.

    What steps will my child and I go through when beginning treatment for SDS at Dana-Farber/Boston Children's?

    • Before your first visit, our administrative staff will arrange to have a full summary of your child's previous medical history, lab work and pathology slides sent to us for review.
       
    • If you and your child are traveling from a distance, the information obtained before your visit will be used to determine whether your child needs to see any other specialists here. This way, we can coordinate as many appointments for you as possible in the same time frame.
       
    • During the first visit, you and your child will likely meet with David A. Williams, MD, or Colin Sieff, MB, BCh, co-directors of our Bone Marrow Failure Clinic. The clinic will also arrange for you and your child to see other specialists as needed. For instance, your child may be seen by a geneticist, a gastroenterologist and a endocrinologist.
       
    • After the first visit (which will include a full assessment, further laboratory tests and other possible steps), your child's treatment team will develop a care plan for discussion with you. 

    What specialties and services are involved in the multidisciplinary treatment approach at DF/CHCC?

    Patients with SDS usually require expert care from specialists in hematology, gastroenterologyendocrinology and orthopedics.

    In addition, ongoing dental care is crucial. Some children may also require neurodevelopmental monitoring.

    Treatment options 

    Pancreatic enzyme replacement

    Most children with Shwachman-Diamond syndrome experience nutritional malabsorption due to pancreatic insufficiency. Combined with diarrhea—which can range from minimal and mild, to severe (called steatorrhea)— this complication calls for pancreatic enzyme replacement.

    The treatment is:

    • Used to help break down food into smaller, more absorbable nutrients
    • Taken orally with snacks and meals in powder or capsule form
    • Sometimes associated with side effects, which may include irritation around the mouth and anus, allergic reactions, nausea, cramping, constipation and a fibrous condition in the colon that is typically only associated with very high doses

    Spontaneous improvement is common as children grow older. By age 4, 50 percent of children receiving pancreatic enzyme replacement no longer need the treatment.

    Hematologic guidelines

    • Detailed recommendations are made when a child with a low white blood cell count (neutropenia) is running a fever.
    • Treatment often includes intravenous antibiotics.
    • Guidelines will be discussed on an individual basis, and will depend upon the child's specific neutrophil count.

    Growth factor therapy

    Children who have frequent infections because of low neutrophil counts may benefit from treatment with a white blood cell-stimulating growth factor called granulocyte colony-stimulating factor, or G-CSF (also known as Neopogen or Neulasta). G-CSF:  

    • Stimulates bone marrow to make more white blood cells
    • Is given by injection
    • Carries both risks and benefits that vary from child to child

    Occasionally, a medicine that increases red blood cells (erythopoietin) is recommended.

    These growth factors can often be very effective. 

    Orthopedic surgery

    • The need for this surgery depends on a child's specific skeletal problems.

    Blood product replacement

    • Blood and/or platelet transfusions may be given to raise counts in children with SDS who are at high risk for severe anemia or bleeding.
    • Side effects of these transfusions may include fever, headache, hives, allergic reactions and infection.

    Long-term care

    Regardless of their specific symptoms, all children with Shwachman-Diamond syndrome require long-term care.

    • Long-term monitoring and follow-up is critical.
    • Regular tests and examinations are necessary to evaluate each child's health.
    • The frequency of follow-up appointments depends on a patient's overall well-being. Typically, annual visits are scheduled for children without any major problems, and more frequent visits are required for patients experiencing complications.

    What extent of symptom improvement can I realistically expect for my child?

    With modern treatment options and ongoing management, most children with SDS can expect to lead normal lives, although continued medications and regular monitoring through hospital visits is usually required.

    Talk to your child's doctor for specific information about her symptoms and long-term outlook.

    Coping and support

    In addition to the clinical information provided on this webpage, Dana-Farber/Children's Hospital Cancer Center offers several other resources designed to give your child and family comfort, support and guidance. 

    • The Center for Families is dedicated to helping families locate the information and resources they need to better understand their child's particular condition and take part in their care. All patients, families and health professionals are welcome to use the center's services at no extra cost. The Center for Families is open Monday through Friday from 8 a.m. to 7 p.m., and on Saturdays from 9 a.m. to 1 p.m. Please call 617-355-6279 for more information. 
       
    • The Behavioral Medicine Clinic helps children who are being treated on an outpatient basis at the hospital—as well as their families—understand and cope with their feelings about:
      • being sick
      • facing uncomfortable procedures
      • handling pain
      • taking medication
      • preparing for surgery
      • changes in friendships and family relationships
      • managing school while dealing with an illness
         
    • The Experience Journal was designed by Boston Children's psychiatrist-in-chief, David DeMaso, MD, and members of his team. This online collection features thoughts, reflections and advice from kids and caregivers about living with a variety of medical conditions, the “befores” and “afters” of surgery and going through many other medical experiences.
       
    • The Boston Children's Department of Psychiatry offers a free booklet, “Helping Your Child with Medical Experiences: A Practical Parent Guide.” (Adobe Acrobat required to view and download) Topics in the booklet include:
      • talking to your child about her condition
      • preparing for surgery and hospitalization
      • supporting siblings
      • taking care of yourself during your child's illness
      • adjusting to life after treatment
          
    • The chaplaincy is a source of spiritual support for parents and family members. Our program includes nearly a dozen clergy members—representing Episcopal, Jewish, Lutheran, Muslim, Roman Catholic, Unitarian and United Church of Christ traditions—who will listen to you, pray with you and help you observe your own faith practices during your child's treatment.
       
    • Boston Children's International Center is a resource for patients and families from countries outside the United States. The center can provide assistance with everything from reviewing medical records to setting up appointments and locating lodging. Contact the center by phone at 01-617-355-5209 or via e-mail at international.center@childrens.harvard.edu

    General guide for families

    Read our guide to essential information for all patient families.

    Helpful links 

    Please note that neither Dana-Farber/Children's Hospital Cancer Center nor the Fanconi Anemia and Bone Marrow Failure Multidisciplinary Clinic at DF/CHCC unreservedly endorses all of the information found at the sites listed below. These links are provided as a resource.

  • Research & Innovation

    Dana-Farber/Boston Children’s has a long history of research and innovation in conditions associated with bone marrow failure. In fact, Boston Children’s Hospital physicians Harry Shwachman, MD, and Louis K. Diamond, MD—the namesakes of Shwachman-Diamond syndrome—and their colleagues, Frank A. Oski, MD, and Kon’T Khaw, MD, were the first to recognize the unique features of six patients with pancreatic malabsorption and blood cytopenias whom they studied and reported on in 1964.

    Today, our researchers are collecting voluntary samples of blood and bone marrow from patients with SDS and other bone marrow failure syndromes in order to better understand the genetic material and molecular aspects of these diseases, as well as clinical outcomes for patients.

    Shwachman-Diamond syndrome and stem cells

    George Daley, MD, PhD, director of the DF/CHCC Stem Cell Transplantation Program and an internationally recognized leader in stem cell research, has created induced pluripotent stem (iPS) cells from a patient with SDS.

    These cells will provide an important model of the biology of SDS, and will also be useful in testing new therapies for the disease. Learn more.

    Shwachman-Diamond syndrome registry

    Our Fanconi Anemia and Bone Marrow Failure Multidisciplinary Clinic participates in a national SDS registry. To learn more or to take part, please contact us at 617-355-8246 x2 or fa-bmf@childrens.harvard.edu.

    Clinical Trials

    For many children with rare or hard-to-treat conditions, clinical trials provide new options. 
    Search our open clinical trials
    Get answers to common questions about clinical trials for cancer and blood disorders
    - Contact us: If you’re not sure which clinical trials might be right for your child, email us at clinicaltrials@danafarberbostonchildrens.org. We can help you navigate your options.

    For many children with rare or hard-to-treat conditions, clinical trials provide new options. - - - Contact us: If you’re not sure which clinical trials might be right for your child, email us at . We can help you navigate your options.

Request an Appointment

If this is a medical emergency, please dial 9-1-1. This form should not be used in an emergency.

Patient Information
Date of Birth:
Contact Information
Appointment Details
Send RequestIf you do not see the specialty you are looking for, please call us at: 617-355-6000.International visitors should call International Health Services at +1-617-355-5209.
Please complete all required fields

This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

Thank you.

Your request has been successfully submitted

You will be contacted within 1 business day.

If you have questions or would like more information, please call:

617-355-6000 +1-617-355-6000
close
Find a Doctor
Search by Clinician's Last Name or Specialty:
Select by Location:
Search by First Letter of Clinician's Last Name: *ABCDEFGHIJKLMNOPQRSTUVWXYZ
BrowseSearch
Condition & Treatments
Search for a Condition or Treatment:
Show Items Starting With: *ABCDEFGHIJKLMNOPQRSTUVWXYZ
View allSearch
Locations
Dana-Farber/Boston Children's Cancer and Blood Disorders Center

The future of pediatrics will be forged by thinking differently, breaking paradigms and joining together in a shared vision of tackling the toughest challenges before us.”
- Sandra L. Fenwick, President and CEO
Close