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 form of the vertebral bodies | 90% |
| Abnormality of the metaphyses | 90% |
| Abnormality of the ribs | 90% |
| Abnormality of the voice | 90% |
| Blue sclerae | 90% |
| Bowing of the long bones | 90% |
| Delayed eruption of teeth | 90% |
| Frontal bossing | 90% |
| Malar flattening | 90% |
| Proptosis | 90% |
| Reduced bone mineral density | 90% |
| Short stature | 90% |
| Skeletal dysplasia | 90% |
| Abnormality of dentin | 50% |
| Communicating hydrocephalus | 50% |
| Intrauterine growth retardation | 50% |
| Kyphosis | 50% |
| Muscular hypotonia | 50% |
| Recurrent fractures | 50% |
| Scoliosis | 50% |
| Wormian bones | 50% |
| Cognitive impairment | 7.5% |
| Joint hypermobility | 7.5% |
| Autosomal dominant inheritance | - |
| Coronal craniosynostosis | - |
| High pitched voice | - |
| Microdontia | - |
| Midface retrusion | - |
| Orbital craniosynostosis | - |
| Osteopenia | - |
| Shallow orbits | - |
| Vertebral compression fractures | - |
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.
