Total 43 clinical symptoms reported for Otospondylomegaepiphyseal dysplasia
Abnormal joint morphology |
An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.
Synonyms:Abnormal shape of joints; Abnormality of the joints; Anomaly of the joints |
Very frequent |
Abnormal pelvis bone morphology |
Synonyms:Abnormal shape of pelvis bone |
Very frequent |
Abnormal vertebral morphology |
An abnormality of one or more of the vertebrae.
Synonyms:Abnormal vertebrae; Abnormality of the vertebrae; Vertebral anomalies |
Very frequent |
Anteverted nares |
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Synonyms:Anteverted nose; Anteverted nostrils; Nasal tip, upturned; Nostrils anteverted; Upturned nares; Upturned nasal tip; Upturned nose; Upturned nostrils |
Very frequent |
Depressed nasal bridge |
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Synonyms:Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge |
Very frequent |
Disproportionate short stature |
A kind of short stature in which different regions of the body are shortened to differing extents.
Synonyms:Short stature, disproportionate |
Very frequent |
Midface retrusion |
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Synonyms:Decreased size of midface; Flat midface; Hypoplasia of midface; Midface deficiency; Midface hypoplasia; Midface retrusion; Midface, flat; Retrusive midface; Underdevelopment of midface |
Very frequent |
Sensorineural hearing impairment |
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Synonyms:Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss |
Very frequent |