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.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Exocrine pancreatic insufficiency||
Inability to properly digest food due to lack of pancreatic digestive enzymes
Decreased muscle tone
Low muscle tone[ more ]
Low blood neutrophil count
Low neutrophil count[ more ]
|30%-79% of people have these symptoms|
|Abnormality of the metaphysis||
Abnormality of the wide portion of a long bone
Low number of red blood cells or hemoglobin
|Delayed skeletal maturation||
Delayed bone maturation
Delayed skeletal development[ more ]
|Failure to thrive||
Weight faltering[ more ]
Mental retardation, nonspecific
Mental-retardation[ more ]
Frequent, severe infections
Increased frequency of infection
Predisposition to infections
Susceptibility to infection[ more ]
Decreased body height
Small stature[ more ]
Low platelet count
|5%-29% of people have these symptoms|
|Acute myeloid leukemia||0004808|
|Bone marrow hypocellularity||
Bone marrow failure
Tooth decay[ more ]
Impaired gait[ more ]
Decreased width of tooth
|Recurrent aphthous stomatitis||
Recurrent canker sores
Abnormal curving of the spine
Shorter than typical length between neck and abdomen
Type 1 diabetes
Type I diabetes[ more ]
|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|
|Elevated hepatic transaminase||
High liver enzymes
|Enlargement of the costochondral junction||0000920|
|Intellectual disability, mild||
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation[ more ]
|Irregular ossification at anterior rib ends||0006598|
Increased bone density in wide portion of long bone
Broad wide portion of long bone
Low chest circumference
Narrow shoulders[ more ]
|Narrow sacroiliac notch||0008803|
|Neonatal respiratory distress||
Infantile respiratory distress
Newborn respiratory distress
Respiratory distress, neonatal[ more ]
Too much calcium deposited in kidneys
|Ovoid vertebral bodies||0003300|
Low blood cell count
|Persistence of hemoglobin F||0011904|
|Proximal femoral epiphysiolysis||
Slipped end part of innermost thighbone
Difficulty breathing[ more ]
|Small for gestational age||
Birth weight less than 10th percentile
Low birth weight[ more ]
|Specific learning disability||0001328|
Fat in feces
In cases where no SBDS mutation is found, the cause of this disorder is unknown.
The mode or type of inheritance of Shwachman-Diamond syndrome in individuals without an identified SBDS mutation is unknown.
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.
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.
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.
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.
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. Submit a new question
I have a niece who has this syndrome, and both parents are carriers of a mutation. If my brother is a carrier of the gene mutation, can I be a carrier too? See answer
If one child has Shwachman-Diamond syndrome, will the second child have it as well if the parents are the same? See answer
How is the diagnosis of Shwachman-Diamond syndrome confirmed? See answer
What is Shwachman-Diamond syndrome and what causes it? See answer