Clinical Signs and Symptoms
ORPHA:811 Shwachman-Diamond syndrome
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Exocrine pancreatic insufficiency HP:0001738
- Generalized hypotonia HP:0001290
- Neutropenia HP:0001875
Very frequent
- Abnormality of the metaphysis HP:0000944
- Anemia HP:0001903
- Delayed skeletal maturation HP:0002750
- Eczema HP:0000964
- Failure to thrive HP:0001508
- Global developmental delay HP:0001263
- Growth delay HP:0001510
- Ichthyosis HP:0008064
- Intellectual disability HP:0001249
- Malabsorption HP:0002024
- Osteopenia HP:0000938
- Recurrent infections HP:0002719
- Short stature HP:0004322
- Thrombocytopenia HP:0001873
Frequent
- Acute myeloid leukemia HP:0004808
- Aplastic anemia HP:0001915
- Bone marrow hypocellularity HP:0005528
- Carious teeth HP:0000670
- Gait disturbance HP:0001288
- Hepatomegaly HP:0002240
- Leukemia HP:0001909
- Microdontia HP:0000691
- Myelodysplasia HP:0002863
- Pectus carinatum HP:0000768
- Recurrent aphthous stomatitis HP:0011107
- Scoliosis HP:0002650
- Short thorax HP:0010306
- Type I diabetes mellitus HP:0100651
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.