National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Shwachman-Diamond syndrome


Other Names:
SDS; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian syndrome; SDS; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian syndrome; Lipomatosis of pancreas, congenital; Congenital lipomatosis of pancreas See More
Categories:
Shwachman-Diamond syndrome (SDS) affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system. Symptoms include the inability to digest food due to missing digestive enzymes, low muscle tone, and anemia. Other symptoms include skeletal findings and intellectual disability. Children with SDS may have feeding difficulties, slow growth, and frequent infections. People with SDS are at increased risk for blood cancers. Shwachman-Diamond syndrome can be caused by the SBDS, DNAJC21, EFL1, or SRP54 gene not working correctly. It can be inherited in either an autosomal recessive or autosomal dominant pattern. SDS is diagnosed is based on symptoms, blood tests, and genetic testing. Treatment may include enzyme and vitamin supplements, blood transfusion, granulocyte-colony stimulating factor (G-CSF), and hematopoietic stem cell transplantation.[1][2][3]

Last updated: 5/27/2020
The following list includes the most common signs and symptoms in people with Shwachman-Diamond syndrome (SDS). These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition. 

Signs and symptoms may include:[1][3]
  • Inability to digest food due to lack of digestive enzymes
  • Anemia
  • Low white blood cells (neutropenia)
  • Low platelets (thrombocytopenia)
  • Frequent infections
  • Short stature
  • Rib and/or spine abnormalities
  • Intellectual disability
Babies with SDS have poor feeding, slow growth, and frequent infections. These may get better with age. Many people with SDS have developmental and intellectual delay.  Because of bone marrow that doesn't work correctly, people with SDS may be at increased risk for certain blood disorders and cancer.[1][4]
Last updated: 5/27/2020

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 53 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Exocrine pancreatic insufficiency
Inability to properly digest food due to lack of pancreatic digestive enzymes
0001738
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Neutropenia
Low blood neutrophil count
Low neutrophil count
[ more ] 		0001875
30%-79% of people have these symptoms
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Anemia
Low number of red blood cells or hemoglobin
0001903
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ] 		0002750
Eczema 0000964
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Global developmental delay 0001263
Ichthyosis 0008064
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Malabsorption
Intestinal malabsorption
0002024
Osteopenia 0000938
Recurrent infections
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ] 		0002719
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Thrombocytopenia
Low platelet count
0001873
5%-29% of people have these symptoms
Acute myeloid leukemia 0004808
Aplastic anemia 0001915
Bone marrow hypocellularity
Bone marrow failure
0005528
Carious teeth
Dental cavities
Tooth cavities
Tooth decay
[ more ] 		0000670
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ] 		0001288
Hepatomegaly
Enlarged liver
0002240
Microdontia
Decreased width of tooth
0000691
Myelodysplasia 0002863
Pectus carinatum
Pigeon chest
0000768
Recurrent aphthous stomatitis
Recurrent canker sores
0011107
Scoliosis 0002650
Short thorax
Shorter than typical length between neck and abdomen
0010306
Type I diabetes mellitus
Type 1 diabetes
Type I diabetes
[ more ] 		0100651
1%-4% of people have these symptoms
Anterior rib cupping 0000907
Proximal femoral metaphyseal irregularity 0003411
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Coxa vara 0002812
Elevated hepatic transaminase
High liver enzymes
0002910
Enlargement of the costochondral junction 0000920
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] 		0001256
Irregular ossification at anterior rib ends 0006598
Metaphyseal chondrodysplasia 0005871
Metaphyseal sclerosis
Increased bone density in wide portion of long bone
0004979
Metaphyseal widening
Broad wide portion of long bone
0003016
Myocardial necrosis 0001700
Narrow chest
Low chest circumference
Narrow shoulders
[ more ] 		0000774
Narrow greater sciatic notch 0003375
Neonatal respiratory distress
Infantile respiratory distress
Newborn respiratory distress
Respiratory distress, neonatal
[ more ] 		0002643
Nephrocalcinosis
Too much calcium deposited in kidneys
0000121
Ovoid vertebral bodies 0003300
Pancytopenia
Low blood cell count
0001876
Persistence of hemoglobin F 0011904
Proximal femoral epiphysiolysis
Slipped end part of innermost thighbone
0006461
Respiratory distress
Breathing difficulties
Difficulty breathing
[ more ] 		0002098
Small for gestational age
Birth weight less than 10th percentile
Low birth weight
[ more ] 		0001518
Specific learning disability 0001328
Steatorrhea
Fat in feces
0002570
Showing of 53 |
Last updated: 7/1/2020
Shwachman-Diamond syndrome (SDS) is caused by the SBDS, DNAJC21, EFL1 or SRP54 gene not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.[1][2]

In about 10% of people, the exact genetic cause has not been found.[1]
Last updated: 5/27/2020
Shwachman-Diamond syndrome (SDS) associated with a SBDS, DNAJC21, or EFL1 gene is inherited in an autosomal recessive pattern. All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must be altered to have the condition.
 
People with autosomal recessive conditions inherit one gene alteration from each of their parents. The parents, who each have one gene alteration, are known as carriers, and typically do not have any symptoms. When two carriers of an autosomal recessive condition have children, there is a 25% (1 in 4) chance to have a child with the condition.

Shwachman-Diamond syndrome associated with a SRP54 gene is inherited in an autosomal dominant pattern. Dominant means that only one altered copy of a gene is necessary to have the condition. The alteration can be inherited from either parent. In many cases of SDS due to the SRP54 gene, the condition occurs because of a new genetic alteration (de novo) and there is no history of this condition in the family.
  
Each child of an individual with an autosomal dominant condition has a 50% or 1 in 2 chance of inheriting the alteration and the condition. Typically, children who inherit a dominant alteration will have the condition, but they may be more or less severely affected than their parent. Sometimes a person may have a gene alteration for an autosomal dominant condition and show no signs or symptoms of the condition.[1]
Last updated: 5/27/2020
The diagnosis of Shwachman-Diamond syndrome is based on a clinical exam and other diagnostic tests. Blood tests to look at the white blood cells, red blood cells, and platelets may be helpful. Other tests may be done to check for the function of the pancreas, liver, and kidneys. Genetic testing may be used to confirm the diagnosis.[1][3]
Last updated: 5/27/2020

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment for Shwachman-Diamond syndrome (SDS) is based on managing the symptoms. Treatment options include replacement of missing pancreatic enzymes to aid digestion and a special diet that includes fat-soluble vitamins. Additional treatments include blood transfusions and antibiotics. In cases with severe blood disease, a hematopoietic stem cell transplant may be an option.[1][3][4]

Specialists involved in the care of someone with Shwachman-Diamond syndrome may include:
  • Hematologist
  • Gastroenterologist
  • Medical geneticist
  • Orthopedist
  • Endocrinologist
  • Immunologist
Last updated: 5/27/2020
It has been estimated that about one in 77,000 people has Shwachman-Diamond syndrome.[1][3] The exact number of people with this condition is unknown.
Last updated: 5/27/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include cystic fibrosis, Pearson syndrome, Fanconi anemia, Johanson-Blizzard syndrome, Blackfan-Diamond anemia, celiac disease, and autosomal recessive severe congenital neutropenia due to G6PC3 deficiency (see these terms).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Shwachman-Diamond syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Shwachman-Diamond syndrome. This website is maintained by the National Library of Medicine.
  • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Shwachman-Diamond syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Nelson A, Myers K. Shwachman-Diamond Syndrome. GeneReviews. Updated Oct. 18, 2018; http://www.ncbi.nlm.nih.gov/books/NBK1756/.
  2. Bezzerri V, Cipolli M. Shwachman-Diamond syndrome: Molecular mechanisms and current perspectives. Mol Diagn Ther. Apr 2019; 23(2):281-290. https://pubmed.ncbi.nlm.nih.gov/30413969.
  3. Nelson AS, Myers KC. Diagnosis, Treatment, and Molecular Pathology of Shwachman-Diamond syndrome. Hematol Oncol Clin North Am. 2018; 32(4):687-700. https://pubmed.ncbi.nlm.nih.gov/30047420.
  4. Farooqui SM, Aziz M. Shwachman-Diamond Syndrome. StatPearls [Internet] Treasure Island (FL): StatPearls Publishing. 2020; https://pubmed.ncbi.nlm.nih.gov/29939643.
  5. Black V. Shwachman Syndrome. National Organization of Rare Disorders (NORD). 2012; https://rarediseases.org/rare-diseases/shwachman-diamond-syndrome/.