Phenotypes associated with the disease hyperostosis cranialis interna (OMIM:144755):
- Epiphora (HP:0009926): Abnormally increased lacrimation, that is, excessive tearing (watering eye). Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:144755)
- Facial palsy (HP:0010628): Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form. Evidence: PCS. Frequency: 9/13. (PMID:20140965)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. (PMID:20140965)
- Abnormal vestibular function (HP:0001751): An abnormality of the functioning of the vestibular apparatus. Evidence: PCS. Frequency: 10/13. (PMID:20140965)
- Mastoiditis (HP:0000265): Infection of the mastoid air cells, arising as a complication of otitis media or occurring in the context of unusual susceptibility to infection. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:144755)
- Ocular hypertension (HP:0007906): Intraocular pressure that is 2 standard deviations above the population mean. Evidence: PCS. Frequency: 1/13. (PMID:20140965)
- Tinnitus (HP:0000360): Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. Evidence: PCS. (PMID:20140965)
- Hyperostosis cranialis interna (HP:0005890): Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull. Evidence: PCS. (PMID:20140965)
- Calvarial hyperostosis (HP:0004490): Excessive growth of the calvaria. Evidence: PCS. Frequency: 13/13. (PMID:20140965)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 8/8. (PMID:20140965)
- Chiari type I malformation (HP:0007099): Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line). Evidence: PCS. Frequency: 1/13. (PMID:20140965)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. (PMID:20140965)
- Ocular pain (HP:0200026): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:144755)
- Hyposmia (HP:0004409): A decreased sensitivity to odorants (that is, a decreased ability to perceive odors). Evidence: IEA. (OMIM:144755)
- Reduced visual acuity (HP:0007663). Evidence: IEA. (OMIM:144755)
- Anosmia (HP:0000458): An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell. Evidence: PCS. Frequency: 6/13. Onset: Young adult onset (HP:0011462). (PMID:20140965)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: IEA. (OMIM:144755)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: PCS. Frequency: 5/10. Onset: Young adult onset (HP:0011462). (PMID:20140965)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:144755)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:29621230)
- Osteosclerosis of the base of the skull (HP:0005746): An increase in bone density affecting the basicranium (base of the skull). Evidence: PCS. Frequency: 13/13. (PMID:20140965)