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) |
| Abnormal cortical bone morphology | Very frequent (present in 80%-99% of cases) |
| Abnormal form of the vertebral bodies | Very frequent (present in 80%-99% of cases) |
| Abnormality of immune system physiology | Very frequent (present in 80%-99% of cases) |
| Abnormality of pelvic girdle bone morphology | Very frequent (present in 80%-99% of cases) |
| Abnormality of the femur | Very frequent (present in 80%-99% of cases) |
| Abnormality of the metaphyses | Very frequent (present in 80%-99% of cases) |
| Abnormality of the tibia | Very frequent (present in 80%-99% of cases) |
| Anemia | Very frequent (present in 80%-99% of cases) |
| Bowing of the long bones | Very frequent (present in 80%-99% of cases) |
| Craniofacial hyperostosis | Very frequent (present in 80%-99% of cases) |
| Diaphyseal thickening | Very frequent (present in 80%-99% of cases) |
| Hyperostosis cranialis interna | Occasional (present in 5%-29% of cases) |
| Leukopenia | Occasional (present in 5%-29% of cases) |
| Neurological speech impairment | Occasional (present in 5%-29% of cases) |
| Splenomegaly | Occasional (present in 5%-29% of cases) |
| Autosomal recessive inheritance | - |
| Bone marrow hypocellularity | - |
| Diaphyseal dysplasia | - |
| Increased bone mineral density | - |
| Myelofibrosis | - |
| Phenotypic variability | - |
| Refractory anemia | - |
| Thrombocytopenia | - |
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.
