Orpha Number: 1135
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) |
| Aplasia/Hypoplasia involving the nose | Very frequent (present in 80%-99% of cases) |
| Microphthalmia | Very frequent (present in 80%-99% of cases) |
| Midface retrusion | Very frequent (present in 80%-99% of cases) |
| Abnormality of the sense of smell | Frequent (present in 30%-79% of cases) |
| Choanal atresia | Frequent (present in 30%-79% of cases) |
| High palate | Frequent (present in 30%-79% of cases) |
| Hypertelorism | Frequent (present in 30%-79% of cases) |
| Hypogonadotrophic |
Frequent (present in 30%-79% of cases) |
| Inguinal hernia | Frequent (present in 30%-79% of cases) |
| Lacrimation abnormality | Frequent (present in 30%-79% of cases) |
| Reduced number of teeth | Frequent (present in 30%-79% of cases) |
| Aplasia of the nose | - |
| Hypogonadism | - |
| Hyposmia | - |
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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