The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Exocrine pancreatic insufficiency | 90% |
| Cognitive impairment | 50% |
| Delayed skeletal maturation | 50% |
| Eczema | 50% |
| Ichthyosis | 50% |
| Macrocytic anemia | 50% |
| Reduced bone mineral density | 50% |
| Short stature | 50% |
| Thrombocytopenia | 50% |
| Bone marrow hypocellularity | 7.5% |
| Gait disturbance | 7.5% |
| Hepatomegaly | 7.5% |
| Microdontia | 7.5% |
| Pectus carinatum | 7.5% |
| Scoliosis | 7.5% |
| Short thorax | 7.5% |
| Type I diabetes mellitus | 7.5% |
| Anterior rib cupping | 6/6 |
| Proximal femoral metaphyseal irregularity | 6/6 |
| Acute myeloid leukemia | - |
| Autosomal recessive inheritance | - |
| Coxa vara | - |
| Elevated hepatic transaminases | - |
| Enlargement of the costochondral junction | - |
| Failure to thrive | - |
| Intellectual disability, mild | - |
| Irregular ossification at anterior rib ends | - |
| Metaphyseal chondrodysplasia | - |
| Metaphyseal sclerosis | - |
| Metaphyseal widening | - |
| Myelodysplasia | - |
| Myocardial necrosis | - |
| Narrow chest | - |
| Narrow sacroiliac notch | - |
| Neonatal respiratory distress | - |
| Nephrocalcinosis | - |
| Neutropenia | - |
| Ovoid vertebral bodies | - |
| Pancytopenia | - |
| Persistence of hemoglobin F | - |
| Proximal femoral epiphysiolysis | - |
| Recurrent infections | - |
| Small for gestational age | - |
| Specific learning disability | - |
| Steatorrhea | - |
Mutations in the SBDS gene have been identified in about 90 percent of people with the characteristic features of Shwachman-Diamond syndrome. This gene provides instructions for making a protein whose function is unknown, although it is active in cells throughout the body. Researchers suspect that the SBDS protein may play a role in processing RNA (a molecule that is a chemical cousin of DNA). This protein may also be involved in building ribosomes, which are cellular structures that process the cell's genetic instructions to create proteins. It is unclear how SBDS mutations lead to the major signs and symptoms of Shwachman-Diamond syndrome.[1]
In cases where no SBDS mutation is found, the cause of this disorder is unknown.[1]
The mode or type of inheritance of Shwachman-Diamond syndrome in individuals without an identified SBDS mutation is unknown.[2]
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare 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.
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
