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 | 90% |
| Abnormal nasal morphology | 90% |
| Abnormality of dentin | 90% |
| Abnormality of the palate | 90% |
| Abnormality of the tongue | 90% |
| Bowing of the long bones | 90% |
| Brachydactyly syndrome | 90% |
| Cerebral calcification | 90% |
| Hypertelorism | 90% |
| Hypoplasia of the zygomatic bone | 90% |
| Increased bone mineral density | 90% |
| Malar flattening | 90% |
| Microcephaly | 90% |
| Micromelia | 90% |
| Narrow nasal bridge | 90% |
| Pectus excavatum | 90% |
| Proptosis | 90% |
| Scoliosis | 90% |
| Short stature | 90% |
| Skeletal dysplasia | 90% |
| Abnormality of calvarial morphology | 50% |
| Hyperlordosis | 50% |
| Kyphosis | 50% |
| Reduced number of teeth | 50% |
| Abnormality of epiphysis morphology | 7.5% |
| Abnormality of the metaphyses | 7.5% |
| Convex nasal ridge | 7.5% |
| Exostoses | 7.5% |
| Short neck | 7.5% |
| Wormian bones | 7.5% |
| Autosomal dominant inheritance | - |
| Brachycephaly | - |
| Craniofacial dysostosis | - |
| Kyphoscoliosis | - |
| Massively thickened long bone cortices | - |
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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