Last updated:
5/8/2026
Years published: 1987, 1989, 1993, 1996, 1997, 1999, 2001, 2002, 2009, 2012, 2026
NORD gratefully acknowledges Vandy Black, MD, Assistant Professor of Pediatrics, Division of Pediatric Hematology, Johns Hopkins University, for assistance in the preparation of this report. We also acknowledge the assistance of Sophia LaPietra, Ella Johnson and Kolton Lee, editorial interns from the University of Notre Dame, Eszter Hars, PhD, Shwachman-Diamond Syndrome Alliance, and Barbara Calhoun, NP.
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive genetic disorder characterized by multi-organ system failures, including blood-related (hematological) disorders such as low white blood cell count (neutropenia), bone malformations, the inability to produce enzymes needed to digest food (pancreatic insufficiency), and a highly increased risk of developing Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML). Individuals generally present in infancy, and 90% of cases are caused by a variant in the SBDS gene, which is responsible for ribosome formation.52 Management of symptoms is the only treatment that is available. Overall, a multidisciplinary care team (orthopedics, endocrinology, gastroenterology, dentists, hematology, nutrition, physical therapists, etc.) will be necessary to monitor, manage, and prevent symptoms associated with SDS. There is no definitive list of diagnostic criteria, but SDS should be suspected if the individual presents with any of the associated symptoms.
SDS is a rare genetic disorder characterized by insufficient absorption (malabsorption) of necessary nutrients due to abnormal development of the pancreas (exocrine pancreatic dysfunction); impaired functioning of the bone marrow, resulting in a reduced number of certain blood cells (persistent or intermittent neutropenia and single or multilineage cytopenias); abnormal bone changes that may affect the rib cage and/or bones in the arms and/or legs (metaphyseal dysostosis); short stature; recurrent infections; and/or other physical and/or developmental abnormalities. The range and severity of symptoms may vary greatly from case to case.15,18,36
Pancreatic Symptoms: One of the primary functions of the pancreas is to produce digestive enzymes. Pancreatic cells called “acinar cells” produce such digestive enzymes. In Shwachman syndrome, however, affected individuals lack a sufficient number of properly functioning acinar cells, and pancreatic tissue may be replaced by abnormal accumulations of fat (pancreatic lipomatosis). As a result, there is a deficiency in the amount of digestive enzymes required to break down food (pancreatic insufficiency), which, in turn, prevents fats and available essential nutrients from being absorbed properly (malabsorption).15,18,36
In individuals with SDS, intestinal malabsorption results in large, loose, foul-smelling stools that contain an excessive amount of fat (steatorrhea) and other nutrients.15,18,36 Affected infants may fail to gain the expected amount of weight or may lose weight (failure to thrive). In addition, pancreatic insufficiency may result in deficiencies of certain vitamins (e.g., vitamins A, D, K and/or E) and/or additional nutritional deficiencies. Children with SDS may have larger or smaller appetites than normal and be smaller than expected for their ages, which may be due, in part, to malabsorption of certainnecessarynutrients.
As children with SDS grow older, the ability of the pancreas to produce digestive enzymes may improve slightly, potentially leading to an improvement in the absorption of certain nutrients and relief of symptoms associated with malabsorption. For example, in almost 50 percent of cases, older children may begin to have normal stool patterns. However, even with improved absorption of nutrients and acceptable weight gain, most affected children will be smaller than average for their age.57
Bone Marrow Dysfunction: SDS is also characterized by abnormalities of the soft tissue within bone, called bone marrow. Red bone marrow, which is found within the cavities of all bones at birth, contains immature cells known as stem cells which give rise to the three cellular components of the blood. These include red blood cells, which carry oxygen to the cells of the body; white blood cells, which are involved in fighting off infections; and platelets, which help the blood to clot properly. In SDS, bone marrow dysfunction results in impaired production of blood cells. Furthermore, patients with SDS are at increased risk for clonal evolution in the bone marrow, which is when abnormal cells with chromosomal changes or genetic mutations start to multiply. This can lead to myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML)53. These abnormalities may lead to problems with certain blood cells that are made in the bone marrow (myeloid lineage), such as myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML).
In addition, failure of the bone marrow’s cell-generating capacity leads to decreased levels of all cellular components of the blood (pancytopenia), potentially in association with myelodysplastic syndrome (MDS). MDS refers to bone marrow disorders characterized by blood cells that are poorly formed and may malfunction. MDS may progress to acute myeloid leukemia (AML), a cancer of the myeloid lineage in which immature blood cell precursors proliferate uncontrollably and crowd out normal blood cells. An estimated 30% of patients will develop these conditions by age 30, with the numbers continuing to rise with age.58
Blood-Related Symptoms: Almost all individuals with SDS have an abnormally decreased number of certain white blood cells (neutrophils). This condition, called neutropenia, may be chronic (persistent) or intermittent (fluctuating over time).
Neutrophils play an essential role in fighting bacterial infections by detecting, engulfing, and digesting invading bacteria (phagocytosis). In neutropenia associated with SDS, not only may there be an abnormally low number of neutrophils, but those that are present may have an impaired ability to detect and appropriately respond to invading bacteria (impaired chemotaxis). As a result, affected individuals with neutropenia may be prone to repeated bacterial infections including respiratory infections (e.g., pneumonia); infections of the middle ear (otitis media); and repeated bacterial infections of other areas of the body. Although most young children with SDS are prone to such repeated bacterial infections, such susceptibility may vary from case to case, depending upon the degree of neutropenia and other immune factors that help the body to fight off infections.
Affected individuals with neutropenia may also have additional abnormalities believed to result from an increased susceptibility to infections. These may include increased tooth decay (dental caries), mouth ulcers, and/or disease of the tissues that surround and support the teeth (periodontal disease).
The bone marrow dysfunction associated with SDS may result in abnormalities in the production of other types of blood cells. In some cases, affected individuals have a reduced number of circulating blood platelets (thrombocytopenia), which play an important role in clotting the blood. Individuals with thrombocytopenia may bruise easily and, without appropriate precautions, be prone to abnormal bleeding; however, episodes of severe bleeding are rare.
In some individuals with SDS, there may be abnormally low levels of red blood cells (anemia). Because red blood cells contain hemoglobin, which functions to carry oxygen, low levels of red blood cells may result in an impaired ability to transport oxygen from the lungs to tissues throughout the body. Associated symptoms may include fatigue, abnormal paleness of the skin (pallor), and/or other findings.
Growth-Related Symptoms: Approximately half of individuals with SDS also have abnormal bone changes that may affect the rib cage and/or bones in the arms and/or legs (limbs). For example, some affected individuals may have abnormal thickening of the ribs and their supporting connective tissue (costochondral thickening), resulting in abnormally short, flared ribs. In rare cases, abnormal narrowness of the rib cage may cause insufficient lung development and function and difficulties with breathing during infancy. However, such symptoms may improve later in childhood. In severe cases, treatment may include rib expansion surgeries.
In cases where limb bone changes occur, the region where the long shaft of the bone (diaphysis) meets its growing end (epiphysis) may develop improperly (metaphyseal dysostosis). In most cases, metaphyseal dysostosis has no harmful effects. However, abnormal bone development (improper ossification) may cause growth delay in a bone. Such abnormalities may affect particular areas such as the thigh bone (femur) or the shin bone (tibia). For example, such changes may cause an abnormal reduction in the angle of the thigh bone or the knee, potentially resulting in shortening of the leg, stiffness, and/or limping.
In rare cases, individuals with SDS may have additional skeletal malformations such as fingers that are abnormally bent (clinodactyly).
Some affected infants may also have delays in tooth eruption, and their teeth may develop improperly (dental dysplasia).
Another primary characteristic often associated with SDS is short stature.59 At birth, affected infants are usually of normal height and weight. However, shortly after birth, growth slows and, by the first year of life, most children are below average for height and weight. Most children continue to grow and gain weight at a normal rate but remain smaller than average. The severity of the abnormality varies greatly from case to case.
Although malabsorption due to pancreatic insufficiency may cause secondary problems with growth and nutrition, short stature appears to be one of the many primary manifestations of SDS.
Liver and Kidney Symptoms: Those affected may also have an abnormally large liver (hepatomegaly) and/or increased levels of certain liver enzymes in the blood (serum liver enzymes). The cause of increased liver enzymes is unknown, and there is no known effective treatment. Enzyme levels may rise greatly in early childhood, and then go down back to the normal range within a year or two.
In addition, in some rare cases, those with the disorder may be affected by renal tubular acidosis, a condition in which there is insufficient removal of acid from the blood by the kidney (renal) tubules for excretion in the urine. The renal tubules are part of the filtering units of the kidneys (nephrons). Renal tubular acidosis may lead to increased acid levels in the blood, low blood potassium levels, abnormal calcium deposits within functional tissue (parenchyma) of the kidneys (nephrocalcinosis), softening of bones (osteomalacia), and/or other findings.29
Neurologic Symptoms: Some children with SDS may experience a delay in reaching developmental milestones (such as crawling, sitting, walking, learning to speak, etc. [delayed motor and speech development]); however, by school age, affected children usually reach their expected milestones. Many children with SDS have a normal I.Q, (intelligence quotient); however, in some cases, affected children may have a below-normal I.Q.
Other Symptoms
Some individuals with SDS may also have additional physical abnormalities. For example, many may exhibit abnormally decreased saliva production, though such symptoms do not appear to contribute to digestive abnormalities. In addition, in early childhood, some with the disorder may have various skin abnormalities including rashes and/or skin that is scaly, dry, and/or rough (ichthyosiform lesions). In many cases the skin abnormalities may decrease or cease during later childhood, however eczema and other skin issues can be exacerbated by malabsorption of fat soluble vitamins, in particular vitamin A.
In rare cases, individuals with SDS may have heart (cardiac) abnormalities. For example, some affected individuals may have abnormal enlargement of the right side of the heart (right-sided hypertrophy). In addition, per reports in the medical literature, children with SDS in a small population in Finland have had an abnormally increased incidence of heart muscle (myocardial) abnormalities as a secondary characteristic in association with the disorder.33 In such cases, the abnormal formation of scar tissue within heart muscle (myocardial fibrosis) may result in tissue damage and loss (necrosis) in certain areas of the heart (e.g., left ventricle), potentially resulting in life-threatening complications (e.g., heart failure). However, researchers have not observed such patterns of myocardial fibrosis in children with SDS in other geographic locations.
In extremely rare cases, individuals with SDS may also have nervous system abnormalities. These may include an impaired ability to perform certain voluntary movements (apraxia), low muscle tone (hypotonia), and/or general weakness.
Around 90% of those who are diagnosed with SDS carry a variant in the SBDS gene55. The SBDS gene is found on chromosome 7 and is widely expressed throughout many organ systems in the body. It is responsible for making the protein that is needed to create ribosomes. Thus, there are not enough functional ribosomes leading to “ribosomal stress”. This can result in disruptions to many organ systems throughout the body.
SDS is a rare genetic disorder that may be apparent at birth (congenital), during early infancy, or within the first few years of life. In rare cases, the diagnosis may be made during adolescence or adulthood. Reports indicate that the disorder affects males and females. All ethnicities appear to be equally affected. Reported estimates concerning the disorder’s incidence have varied, ranging from approximately 1 in 77,000 to 1 in 200,000 (Incidence refers to the number of new cases of a particular disorder or condition during a specific period.) Genetic testing can lead to a definitive diagnosis if there are biallelic pathogenic variants in the SBDS gene. If a genetic diagnosis cannot be established, then the diagnosis is less clear. In these cases, a clinical diagnosis can be made by experienced clinicians, usually based on pancreatic dysfunction combined with bone marrow dysfunction.
Shwachman-Diamond syndrome is usually diagnosed at birth or during early childhood based upon a thorough clinical evaluation, characteristic physical findings, and specialized tests. In rare cases, the diagnosis may be made during adolescence or adulthood.
Genetic testing can confirm a diagnosis of SDS by identifying pathogenic variants (disease-causing mutations) in genes known to cause the condition. Approximately 90% of patients have variants in the SBDS gene on chromosome 7. These variants may occur spontaneously (de novo) or be inherited in an autosomal recessive pattern (requiring one variant from each parent, and no healthy copy of the gene). Other genes associated with SDS or SDS-like syndromes include DNAJC21, EFL1, and SRP54. Variants in DNAJC21 and EFL1 genes are also autosomal recessive, while SRP54 gene variants are autosomal dominant (requiring only one altered copy from one parent). These genes are much less commonly involved than SBDS.
When steatorrhea (fatty stool) is present without chronic respiratory abnormalities, a sweat test may be performed to help exclude a possible diagnosis of cystic fibrosis. A sweat test measures the concentration of sodium and chloride excreted from the sweat glands. Although individuals with SDS and cystic fibrosis may have certain similar symptoms (e.g., steatorrhea and other findings associated with pancreatic insufficiency and malabsorption), individuals with SDS have normal concentrations of electrolytes in their sweat, while those with cystic fibrosis have abnormally elevated concentrations of sodium and chloride.
In addition, several specialized imaging tests may be used to confirm the presence of specific abnormalities potentially associated with SDS. Pancreatic abnormalities, such as fatty infiltration (pancreatic lipomatosis), may be demonstrated by computed tomography (CT) scanning, abdominal ultrasound, and/or magnetic resonance imaging (MRI).35 However, these methods might not be used as much for pediatric patients. During CT scanning, a computer and X-rays are used to create a film showing cross-sectional images of an organ’s tissue structure. In ultrasonography, reflected sound waves create an image of the organs in question. MRI uses a magnetic field and radio waves to create cross-sectional images of the organ.
Various specialized tests of the pancreas may also be performed to help confirm pancreatic insufficiency. The primary test used is the fecal elastase test. Other tests may include stool tests, blood tests, and/or analysis of secretions from the pancreas that are released into the duodenum. The duodenum is the first portion of the small intestine. Blood tests show serum trypsinogen in affected children or low serum pancreatic isoamylase in both children and adults.
Bone marrow dysfunction may be confirmed and characterized by the removal and microscopic examination of fluid and tissue samples (bone marrow aspiration and biopsy) as well as blood studies. Various specialized analyses may be conducted on bone marrow fluid and tissue samples, including measures to identify bone marrow disorders (myelodysplastic changes) and chromosomal studies to detect structural abnormalities of chromosome 7. As mentioned above, bone marrow dysfunction in those with SDS may manifest at different times by varying combinations of neutropenia, thrombocytopenia, and/or anemia. Hematological problems due to bone marrow dysfunction may be monitored by tests that measure the various types of blood cells. Next-Generation Sequencing (NGS) analysis is a clinical tool often used for hematologic surveillance for patients with SDS. NSG-based sequencing scans the blood or bone marrow to flag clones. Clones are cells in the bone marrow that have acquired new variants (somatic variants) that give them a growth advantage.
Two distinct clonal pathways have been identified, with very different clinical implications.
One pathway involves EIF6 inactivation, which acts as a compensatory or “rescue” mechanism at the cellular level. This type of change may improve ribosome function and is generally associated with a lower risk of progression to leukemia.
In contrast, the second pathway involves variants in the TP53 gene. These changes are considered maladaptive. When both copies of TP53 are inactivated (biallelic loss), there is a significantly increased risk of developing myeloid cancers.
This distinction is essential for risk stratification, as not all clonal changes carry the same risk, and identifying the specific pathway can help guide monitoring and clinical decision-making.
This is a very important predictor of leukemia risk and a critical tool of surveillance. Working with an experienced hematologist is very important to manage the leukemia risk that many SDS patients face.
Skeletal abnormalities potentially occurring in association with SDS (e.g., metaphyseal dysostosis and rib cage abnormalities) may be identified by physical examination and specialized X-ray studies.4 It is also important to monitor for osteopenia and osteoporosis. In some cases, additional diagnostic tests may also be conducted to detect, characterize, and/or monitor certain abnormalities potentially associated with the disorder.
There are currently no FDA-approved treatments that fix the underlying genetic cause of Shwachman-Diamond syndrome (SDS). Instead, care focuses on managing the specific symptoms a person has. In some cases, a bone marrow transplant, also called hematopoietic stem cell transplantation (HSCT), can cure the blood-related parts of the disease.
Care for SDS often involves a team of specialists who work together to plan treatment. This team may include pediatricians, endocrinologists (hormone specialists), gastroenterologists (digestive system specialists), orthopedists (bone specialists), hematologists (blood specialists), dentists, surgeons, physical therapists, and dietitians. Among these, the hematologist plays a key role because bone marrow failure and leukemia are the most serious risks.
People with SDS who have pancreatic insufficiency may need pancreatic enzyme replacement therapy (PERT). These are enzyme supplements taken with meals to help the body properly digest and absorb fats and nutrients. Many patients also need vitamin supplements, especially vitamins A, D, E, and K, which can be harder to absorb. In some cases, a high-calorie or high-protein diet is recommended to support growth and nutrition.
Doctors also monitor patients regularly to watch for blood and bone marrow problems. Suggested checkups include:
If a patient has thrombocytopenia (low platelets), there is a higher risk of bleeding. Doctors and dentists may take extra precautions before procedures, such as using medications to reduce bleeding risk. In more severe cases of anemia (low red blood cells) or thrombocytopenia, blood transfusions may be needed to relieve symptoms.
People with SDS are at higher risk of developing myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML).12,14,41,46 This risk may be higher in those with ongoing blood abnormalities. For this reason, doctors monitor blood counts and bone marrow closely to detect problems early.8,10,12 Bone marrow transplant is usually not done unless there is severe bone marrow failure, MDS, or leukemia.
Outcomes are much better when HSCT is done before cancer develops. Survival is about 80% when done for bone marrow failure, compared to about 49% for MDS and 9% for AML. Reduced-intensity transplant regimens are often preferred in SDS because patients are more sensitive to side effects, especially heart and lung toxicity. Some standard transplant drugs, such as cyclophosphamide and busulfan, may not be suitable due to possible heart-related risks. Chemotherapy may be used as a temporary step before transplant in AML, but maintaining remission is difficult, so moving to transplant quickly is important. In some cases, drugs like azacitidine and venetoclax may be used as a bridge. It is also important to test potential family donors to make sure they do not have unrecognized SDS.
Low neutrophil counts (neutropenia) increase the risk of serious infections. Doctors may monitor closely, recommend preventive steps, and start antibiotics quickly if infections occur. Hospital care may be needed in severe cases.
Some patients with very low neutrophil counts (ANC ≤500/mm³) and frequent infections may be treated with G-CSF.20,23 This medication helps the body make more white blood cells. It can be especially useful before surgeries or dental procedures. However, long-term use is approached with caution because it may increase the risk of leukemia, although this link is not fully proven. The decision to use G-CSF should be made carefully with the medical team, balancing benefits and risks.
Because neutropenia can also increase the risk of dental problems, such as cavities and gum disease, extra dental care and prevention may be needed.
Bone problems related to SDS may require monitoring or treatment. For example, changes in the shape or angle of the thigh bone or knee may need follow-up. In more severe cases, surgery (such as osteotomy) may help improve movement and reduce discomfort.
Early support can help children with SDS reach their full potential. This may include speech therapy (for hearing-related issues) and other medical, social, or educational services.
Genetic counseling can help affected individuals and their families understand the condition. Brothers and sisters should also be evaluated to see if they may need monitoring or treatment.
Other treatments focus on managing symptoms and providing supportive care.
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The only curative therapy for individuals with Shwachman syndrome is a hematopoietic stem cell transplant (HSCT). Hematopoietic stem cells are specialized cells found in the bone marrow (the soft spongy material found in long bones). These blood stem cells grow and eventually develop into one of the three main types of blood cells – red blood cells, white blood cells or platelets. A transplant is done to replace the bone marrow (and consequently the whole blood system) of an affected individual with marrow from a person who does not have a particular disorder. More research is necessary to determine the long-term safety and effectiveness of this potential therapy for infants with Shwachman syndrome. Hematopoietic stem cell transplants are not without drawbacks. The procedure is expensive and carries the risk of serious complications including graft-versus-host disease and other long-term and late effects. HSCT in individuals with Shwachman syndrome is usually reserved for individuals with severely low blood counts (pancytopenia) or individuals who have developed MDS or AML.
Contact for additional information about Shwachman syndrome:
Vandy Black, M.D.
Assistant Professor of Pediatrics
Division of Pediatric Hematology
Johns Hopkins University
720 Rutland Avenue, Ross 1125
Baltimore, MD 21205
Phone: 410-955-6132
Fax: 410-955-8208
Email: [email protected]
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JOURNAL ARTICLES
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INTERNET
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NORD strives to open new assistance programs as funding allows. If we don’t have a program for you now, please continue to check back with us.
NORD y la Fundación MedicAlert se han asociado en un nuevo programa para brindar protección a pacientes con enfermedades raras en situaciones de emergencia.
Aprende más https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/Asegurarse de que los pacientes y los cuidadores estén equipados con las herramientas que necesitan para vivir su mejor vida mientras manejan su condición rara es una parte vital de la misión de NORD.
Aprende más https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/Este programa de asistencia, primero en su tipo, está diseñado para los cuidadores de un niño o adulto diagnosticado con un trastorno raro.
Aprende más https://rarediseases.org/patient-assistance-programs/caregiver-respite/The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.
The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).
View reportOrphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.
View reportOnline Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.
View reportMedlinePlus has information about this condition that may include a description, frequency, causes, inheritance, and links to more information. The information is written for the public, including patients, caregivers and families. MedlinePlus is a service of the National Library of Medicine (NLM), which is part of the National Institutes of Health (NIH).
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