Orpha Number: 2050
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 metaphysis | 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) |
| 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 |
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 |
Frequent (present in 30%-79% of cases) |
| Recurrent fractures | Frequent (present in 30%-79% of cases) |
| 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) |
| - | |
| Coronal |
- |
| 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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