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 vertebral ossification | 90% |
| Abnormality of pelvic girdle bone morphology | 90% |
| Abnormality of the mouth | 90% |
| Abnormality of the sacrum | 90% |
| Depressed nasal ridge | 90% |
| Enlarged thorax | 90% |
| Increased bone mineral density | 90% |
| Low-set, posteriorly rotated ears | 90% |
| Macrocephaly | 90% |
| Micromelia | 90% |
| Palpebral edema | 90% |
| Premature birth | 90% |
| Short stature | 90% |
| Short thorax | 90% |
| Thickened nuchal skin fold | 90% |
| Autosomal recessive inheritance | - |
| Stillbirth | - |
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.
