- Juvenile nasopharyngeal angiofibroma (HP:0030429): A benign but highly vascular nasopharyngeal neoplasm. The tumor originates from the sphenopalatine foramen and involves both the pterygopalatine fossa and the posterior nasal cavity. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:289596)
- Facial edema (HP:0000282). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289596)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289596)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289596)
- Diplopia (HP:0000651): Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289596)
- Nasal congestion (HP:0001742): Reduced ability to pass air through the nasal cavity often leading to mouth breathing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289596)
- Increased intracranial pressure (HP:0002516): An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289596)
- Juvenile colonic polyposis (HP:0012198): The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:289596)
These phenotypes are associated with the disease Juvenile nasopharyngeal angiofibroma (ORPHA:289596).