Shwachman-Diamond syndrome

Title

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:

Blood Diseases; Congenital and Genetic Diseases; Digestive Diseases; Blood Diseases; Congenital and Genetic Diseases; Digestive Diseases; Immune System Diseases; Musculoskeletal Diseases; Rare Cancers See More

Summary Summary

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

Symptoms Symptoms

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.

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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
30%-79% of people have these symptoms
Chronic neutropenia		0410252
Delayed skeletal maturation	Delayed bone maturation Delayed skeletal development [ more ]	0002750
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Hypoamylasemia		0410289
Impaired neutrophil chemotaxis		0040238
Increased mean corpuscular volume		0005518
Increased serum bile acid concentration		0012202
Low levels of vitamin A	Vitamin A deficiency	0004905
Low levels of vitamin D	Deficient in vitamin D Vitamin D deficiency [ more ]	0100512
Low levels of vitamin E	Vitamin E deficiency	0100513
Low levels of vitamin K		0011892
Macrocytic anemia		0001972
Malnutrition		0004395
Myelodysplasia		0002863
Normocytic anemia		0001897
Pancreatic hypoplasia	Underdeveloped pancreas	0002594
Short stature	Decreased body height Small stature [ more ]	0004322
Steatorrhea	Fat in feces	0002570
Thrombocytopenia	Low platelet count	0001873
Transient neutropenia		0410255
5%-29% of people have these symptoms
Abnormal heart morphology	Abnormality of the heart Abnormally shaped heart Heart defect [ more ]	0001627
Abnormal joint morphology	Abnormal shape of joints Abnormality of the joints Anomaly of the joints [ more ]	0001367
Abnormality of the thoracic cavity		0045027
Acute myeloid leukemia		0004808
Aplastic anemia		0001915
Autistic behavior		0000729
Bone marrow hypocellularity	Bone marrow failure	0005528
Carious teeth	Dental cavities Tooth cavities Tooth decay [ more ]	0000670
Deformed rib cage		0000886
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Leukopenia	Decreased blood leukocyte number Low white blood cell count [ more ]	0001882
Metaphyseal chondrodysplasia		0005871
Metaphyseal irregularity	Irregular wide portion of a long bone	0003025
Metaphyseal widening	Broad wide portion of long bone	0003016
Osteopenia		0000938
Pneumonia		0002090
Recurrent bacterial infections	Bacterial infections, recurrent Frequent bacterial infections Increased susceptibility to bacterial infections Recurrent major bacterial infections [ more ]	0002718
Recurrent viral infections		0004429
Short attention span	Poor attention span Problem paying attention [ more ]	0000736
Sinusitis	Sinus inflammation	0000246
Skin rash		0000988
Vertebral compression fractures	Compression fracture	0002953
1%-4% of people have these symptoms
Abnormality of finger	Abnormalities of the fingers	0001167
Abnormality of the outer ear	Abnormality of the external ear Ear anomalies External ear malformations Outer ear abnormality [ more ]	0000356
Anterior rib cupping		0000907
Delayed eruption of teeth	Delayed eruption Delayed teeth eruption Delayed tooth eruption Eruption, delayed Late eruption of teeth Late tooth eruption [ more ]	0000684
Diabetes mellitus		0000819
Eczema		0000964
Elevated hepatic transaminase	High liver enzymes	0002910
Growth hormone deficiency		0000824
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Hepatomegaly	Enlarged liver	0002240
Ichthyosis		0008064
Immunodeficiency	Decreased immune function	0002721
Oral ulcer	Mouth ulcer	0000155
Osteomyelitis	Bone infection	0002754
Proximal femoral epiphysiolysis	Slipped end part of innermost thighbone	0006461
Proximal femoral metaphyseal irregularity		0003411
Sepsis	Infection in blood stream	0100806
Percent of people who have these symptoms is not available through HPO
Anemia	Low number of red blood cells or hemoglobin	0001903
Autosomal recessive inheritance		0000007
Coxa vara		0002812
Enlargement of the costochondral junction		0000920
Global developmental delay		0001263
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 sclerosis	Increased bone density in wide portion of long bone	0004979
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
Neutropenia	Low blood neutrophil count Low neutrophil count [ more ]	0001875
Ovoid vertebral bodies		0003300
Pancytopenia	Low blood cell count	0001876
Persistence of hemoglobin F		0011904
Recurrent infections	Frequent infections Frequent, severe infections Increased frequency of infection infections, recurrent Predisposition to infections Susceptibility to infection [ more ]	0002719
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

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2021

Cause Cause

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

Inheritance Inheritance

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

Diagnosis Diagnosis

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 Treatment

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

Statistics Statistics

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

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Related Diseases Related Diseases

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 Research

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

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Shwachman-Diamond syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for Shwachman-Diamond syndrome:
European Society for Immunodeficiencies (ESID) Registry
The Pediatric Myelodysplastic Syndrome (MDS) and Bone Marrow Failure (BMF) Registry
Inherited Bone Marrow Failure Syndrome Study (IBMFS)
The Shwachman-Diamond Syndrome Registry (SDSR
The Severe Chronic Neutropenia International Registry

Organizations Organizations

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

Shwachman-Diamond Syndrome Alliance
PO Box 2441
Woburn, MA 01888
Telephone: 617-329-1838
E-mail: connect@SDSAlliance.org
Website: https://www.sdsalliance.org/
Shwachman-Diamond Syndrome Foundation
P.O. Box 40
Avon, NY 14414
Toll-free: 888-825-SDSF (7373)
E-mail: info@shwachman-diamond.org
Website: http://www.shwachman-diamond.org

Do you know of an organization? We want to hear from you.

Learn More Learn More

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.

News & Events News & Events

News

Rare Disease Day at NIH 2021
March 1, 2021

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References References

Nelson A, Myers K. Shwachman-Diamond Syndrome. GeneReviews. Updated Oct. 18, 2018; http://www.ncbi.nlm.nih.gov/books/NBK1756/.
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.
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.
Farooqui SM, Aziz M. Shwachman-Diamond Syndrome. StatPearls [Internet] Treasure Island (FL): StatPearls Publishing. 2020; https://pubmed.ncbi.nlm.nih.gov/29939643.
Black V. Shwachman Syndrome. National Organization of Rare Disorders (NORD). 2012; https://rarediseases.org/rare-diseases/shwachman-diamond-syndrome/.