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 | Very frequent (present in 80%-99% of cases) |
| Abnormality of the philtrum | Very frequent (present in 80%-99% of cases) |
| Anal atresia | Very frequent (present in 80%-99% of cases) |
| Anterior hypopituitarism | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Broad alveolar ridges | Very frequent (present in 80%-99% of cases) |
| Camptodactyly of finger | Very frequent (present in 80%-99% of cases) |
| Cognitive impairment | Very frequent (present in 80%-99% of cases) |
| Cryptorchidism | Very frequent (present in 80%-99% of cases) |
| Delayed eruption of teeth | Very frequent (present in 80%-99% of cases) |
| Depressed nasal tip | Very frequent (present in 80%-99% of cases) |
| Dextrocardia | Very frequent (present in 80%-99% of cases) |
| Downslanted palpebral fissures | Very frequent (present in 80%-99% of cases) |
| High palate | Very frequent (present in 80%-99% of cases) |
| Long eyelashes | Very frequent (present in 80%-99% of cases) |
| Low-set ears | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Midshaft hypospadias | Very frequent (present in 80%-99% of cases) |
| Patent ductus arteriosus | Very frequent (present in 80%-99% of cases) |
| Reduced number of teeth | Very frequent (present in 80%-99% of cases) |
| Renal hypoplasia/aplasia | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Wide nasal bridge | Very frequent (present in 80%-99% of cases) |
| Wormian bones | Very frequent (present in 80%-99% of cases) |
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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