Overview
Shwachman-Diamond syndrome (SDS), also sometimes called Shwachman-Bodian-Diamond syndrome, is a rare inherited condition that affects several parts of the body at the same time. It is most well known for causing two main problems: the pancreas does not make enough digestive enzymes to break down food properly, and the bone marrow does not produce enough blood cells. This combination makes SDS a serious condition that requires lifelong medical care. The digestive problems in SDS happen because the pancreas — the organ that normally releases enzymes to help digest fats and proteins — does not work correctly. This leads to poor absorption of nutrients, fatty stools, slow growth, and low weight in infants and young children. The bone marrow problems mean that the body struggles to make enough white blood cells (especially neutrophils), which are needed to fight infections. This puts people with SDS at higher risk for serious bacterial infections. Beyond the pancreas and bone marrow, SDS can also affect the skeleton, causing bone problems and short stature. There is also an increased risk of developing serious blood disorders over time, including a type of bone marrow failure called aplastic anemia and certain blood cancers like myelodysplastic syndrome (MDS) or leukemia. Treatment focuses on managing symptoms — enzyme replacement to help with digestion, growth factors or bone marrow transplant for blood cell problems, and close monitoring for cancer risk. There is currently no cure, but many people with SDS live into adulthood with careful medical management.
Also known as:
Key symptoms:
Fatty, greasy, or foul-smelling stools (due to poor fat digestion)Poor weight gain and slow growth in infancy and childhoodFrequent or severe bacterial infectionsLow white blood cell counts, especially neutrophilsAnemia (low red blood cells), causing tiredness and palenessLow platelet counts, leading to easy bruising or bleedingShort statureBone and joint problems, including abnormal bone developmentDelayed bone age (bones appear younger than expected on X-ray)Liver abnormalities, especially in early childhoodLearning difficulties or developmental delays in some childrenIncreased risk of bone marrow failureIncreased risk of blood cancers such as leukemia or myelodysplastic syndrome
Clinical phenotype terms (50)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
5 eventsVisCardia Inc. — NA
Edinburgh Biosciences Ltd
Shwachman-Diamond Syndrome Alliance Inc
UNICANCER — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Shwachman-Diamond syndrome.
2 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Rare Disease Specialist
Treatment Centers
8 centersChildren's Hospital Colorado
📍 Aurora, Colorado
👤 Zachary Grinspan, MD
Boston Children's Hospital
📍 Boston, Massachusetts
Cincinnati Children's Hospital Medical Center
📍 Cincinnati, Ohio
Dana-Farber Cancer Institute
📍 Boston, Massachusetts
👤 Ann (Annie) W Silk
👤 Matthew Frigault, MD
Baylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Shwachman-Diamond syndrome.
Community
No community posts yet. Be the first to share your experience with Shwachman-Diamond syndrome.
Start the conversation →Latest news about Shwachman-Diamond syndrome
Disease timeline:
New recruiting trial: Impact of Starch Digestibility on Glycemic Variability and Control, Cardiometabolic and Inflammatory Profiles, Microbiota and Intestinal Health in Subjects With Insulin Resistance
A new clinical trial is recruiting patients for Shwachman-Diamond syndrome
New recruiting trial: Synchronized Diaphragmatic Stimulation in Symptomatic Heart Failure
A new clinical trial is recruiting patients for Shwachman-Diamond syndrome
New trial: Shwachman Diamond Syndrome Registry and Study
Phase NA trial recruiting.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's bone marrow problem, and how often do we need to check blood counts?,What is the risk of my child developing leukemia or bone marrow failure, and how will we monitor for this?,Does my child need pancreatic enzyme replacement, and how do we know if the dose is right?,Should we consider genetic testing for other family members, including siblings?,When would a bone marrow transplant be recommended, and what are the risks?,Are there any clinical trials or new treatments we should know about?,What signs of infection or emergency should prompt us to go to the emergency room immediately?
Common questions about Shwachman-Diamond syndrome
What is Shwachman-Diamond syndrome?
Shwachman-Diamond syndrome (SDS), also sometimes called Shwachman-Bodian-Diamond syndrome, is a rare inherited condition that affects several parts of the body at the same time. It is most well known for causing two main problems: the pancreas does not make enough digestive enzymes to break down food properly, and the bone marrow does not produce enough blood cells. This combination makes SDS a serious condition that requires lifelong medical care. The digestive problems in SDS happen because the pancreas — the organ that normally releases enzymes to help digest fats and proteins — does not w
How is Shwachman-Diamond syndrome inherited?
Shwachman-Diamond syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Shwachman-Diamond syndrome typically begin?
Typical onset of Shwachman-Diamond syndrome is infantile. Age of onset can vary across affected individuals.
Are there clinical trials for Shwachman-Diamond syndrome?
Yes — 2 recruiting clinical trials are currently listed for Shwachman-Diamond syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Shwachman-Diamond syndrome?
24 specialists and care centers treating Shwachman-Diamond syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.