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 | Very frequent (present in 80%-99% of cases) |
| Abnormality of the metaphyses | Very frequent (present in 80%-99% of cases) |
| Abnormality of the ribs | Very frequent (present in 80%-99% of cases) |
| Abnormality of the voice | Very frequent (present in 80%-99% of cases) |
| Blue sclerae | Very frequent (present in 80%-99% of cases) |
| Bowing of the long bones | Very frequent (present in 80%-99% of cases) |
| Crumpled long bones | Very frequent (present in 80%-99% of cases) |
| Delayed eruption of teeth | Very frequent (present in 80%-99% of cases) |
| Frontal bossing | Very frequent (present in 80%-99% of cases) |
| Micrognathia | Very frequent (present in 80%-99% of cases) |
| Midface retrusion | Very frequent (present in 80%-99% of cases) |
| Proptosis | Very frequent (present in 80%-99% of cases) |
| Skeletal dysplasia | Very frequent (present in 80%-99% of cases) |
| Abnormality of dental enamel | Frequent (present in 30%-79% of cases) |
| Communicating hydrocephalus | Frequent (present in 30%-79% of cases) |
| Intrauterine growth retardation | Frequent (present in 30%-79% of cases) |
| Kyphosis | Frequent (present in 30%-79% of cases) |
| Muscular hypotonia | Frequent (present in 30%-79% of cases) |
| Recurrent fractures | Frequent (present in 30%-79% of cases) |
| Scoliosis | Frequent (present in 30%-79% of cases) |
| Turricephaly | Frequent (present in 30%-79% of cases) |
| Wormian bones | Frequent (present in 30%-79% of cases) |
| Downslanted palpebral fissures | Occasional (present in 5%-29% of cases) |
| Joint hyperflexibility | Occasional (present in 5%-29% of cases) |
| Autosomal dominant inheritance | - |
| Coronal craniosynostosis | - |
| High pitched voice | - |
| Microdontia | - |
| 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.
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