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 dermatoglyphics | 90% |
| Abnormality of the eyelashes | 90% |
| Abnormality of the palate | 90% |
| Abnormality of the philtrum | 90% |
| Anterior hypopituitarism | 90% |
| Brachydactyly syndrome | 90% |
| Broad alveolar ridges | 90% |
| Camptodactyly of finger | 90% |
| Cognitive impairment | 90% |
| Cryptorchidism | 90% |
| Delayed eruption of teeth | 90% |
| Displacement of the external urethral meatus | 90% |
| Hypertonia | 90% |
| Low-set, posteriorly rotated ears | 90% |
| Patent ductus arteriosus | 90% |
| Reduced number of teeth | 90% |
| Renal hypoplasia/aplasia | 90% |
| Short stature | 90% |
| Situs inversus totalis | 90% |
| Urogenital fistula | 90% |
| Wide nasal bridge | 90% |
| Wormian bones | 90% |
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.
