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Disease Profile
Shwachman-Diamond syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000
Age of onset
Antenatal
ICD-10
D61.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
SDS; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian syndrome;
Categories
Blood Diseases; Congenital and Genetic Diseases; Digestive Diseases;
Summary
Shwachman-Diamond
Symptoms
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
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 |
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 | |
0000819 | |||
Eczema | 0000964 | ||
Elevated hepatic transaminase |
High liver enzymes
|
0002910 | |
Growth |
0000824 | ||
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 | |
Hepatomegaly |
Enlarged liver
|
0002240 | |
Ichthyosis | 0008064 | ||
Decreased immune function
|
0002721 | ||
Oral ulcer |
Mouth ulcer
|
0000155 | |
Osteomyelitis |
Bone infection
|
0002754 | |
Proximal femoral epiphysiolysis |
Slipped end
Cause Shwachman-Diamond
In about 10% of people, the exact genetic cause has not been found.[1] Diagnosis The diagnosis of Shwachman-Diamond
Testing Resources
Treatment Treatment for Shwachman-Diamond
Specialists involved in the care of someone with Shwachman-Diamond syndrome may include:
Related diseasesRelated 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.
OrganizationsSupport 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
Learn moreThese 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
In-Depth Information
References
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