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) |
| Abnormality of the sense of smell | 90% |
| Absent nares | 90% |
| Aplasia/Hypoplasia affecting the eye | 90% |
| Aplasia/Hypoplasia involving the nose | 90% |
| Cataract | 90% |
| Hernia of the abdominal wall | 90% |
| Hypoplasia of penis | 90% |
| Malar flattening | 90% |
| Aplasia/Hypoplasia of the abdominal wall musculature | 50% |
| Choanal atresia | 50% |
| Cryptorchidism | 50% |
| Gynecomastia | 50% |
| Hypertelorism | 50% |
| Iris coloboma | 50% |
| Lacrimation abnormality | 50% |
| Reduced number of teeth | 50% |
| Visual impairment | 50% |
| Aplasia of the nose | - |
| Hypogonadism | - |
| Hyposmia | - |
| Microphthalmia | - |
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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