| HPO |
HP:0000378 |
Cupped ear |
"Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura)." [HPO:probinson, PMID:19162421, PMID:22073081] |
— |
HP:0000377 |
| HPO |
HP:0000381 |
Stapes ankylosis |
"Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles)." [HPO:probinson, PMID:12089654] |
Stapes ankylosis may be congenital or acquired, in which case it is referred to as otosclerosis. Otosclerosis is the most common cause of progressive conductive hearing loss in adults, and is generally manifested as nonsyndromic, delayed-onset, conductive hearing loss, but it may also affect the inner ear to cause sensorineural loss. Congenital stapes ankylosis may be difficult to differentiate from otosclerosis when the diagnosis of conductive hearing loss is delayed. |
HP:0008628 |
| HPO |
HP:0000383 |
Abnormality of periauricular region |
— |
— |
HP:0004426 |
| HPO |
HP:0000384 |
Preauricular skin tag |
"A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear)." [HPO:probinson] |
— |
HP:0000383, HP:0010609 |
| HPO |
HP:0000385 |
Small earlobe |
"Reduced volume of the earlobe." [HPO:probinson, PMID:19152421] |
All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable. |
HP:0009906 |
| HPO |
HP:0000387 |
Absent earlobe |
"Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura." [HPO:probinson, PMID:19152421] |
— |
HP:0009906 |
| HPO |
HP:0000388 |
Otitis media |
"Inflammation or infection of the middle ear." [HPO:probinson] |
— |
HP:0000370, HP:0012649 |
| HPO |
HP:0000389 |
Chronic otitis media |
"Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear." [HPO:probinson] |
— |
HP:0000388 |
| HPO |
HP:0000391 |
Thickened helices |
"Increased thickness of the helix of the ear." [HPO:probinson] |
— |
HP:0011039 |
| HPO |
HP:0000394 |
Lop ear |
"Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha." [HPO:probinson, PMID:19152421] |
The term 'lop ear' refers to excessive protrusion of the ear from the side of the head, that is, the external ear stands away from the head at a greater than normal angle (Normal angle of the auricle to the median plane averages 25 degrees in boys and 18 degrees in girls). Lop ears are usually larger than normal ears. Mild forms are limited to the superior ear, more severe forms affect the superior and posterior ear. The concha may be excessively concave. This should be distinguished from an Overfolded helix where the external contour of the ear is normal. |
HP:0000377 |
| HPO |
HP:0000395 |
Prominent antihelix |
"The presence of an abnormally prominent antihelix." [HPO:probinson] |
— |
HP:0009738 |
| HPO |
HP:0000396 |
Overfolded helix |
"A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear." [HPO:probinson, PMID:19152421] |
This is most often seen in the superior helix where it must be distinguished from a Lop ear (where the usual convexity of the posterior border of the ear is lost). Helix folding is highly variable. |
HP:0008544 |
| HPO |
HP:0000399 |
Prelingual sensorineural hearing impairment |
"A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech." [HPO:probinson] |
— |
HP:0011474 |
| HPO |
HP:0000400 |
Macrotia |
"Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective)." [PMID:19152421] |
This is acknowledged to be a bundled term but retained here because of its usefulness in practice. Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. If only length is increased the term Long ear should be used. |
HP:0000377 |
| HPO |
HP:0000402 |
Stenosis of the external auditory canal |
"An abnormal narrowing of the external auditory canal." [HPO:probinson] |
— |
HP:0000372 |
| HPO |
HP:0000403 |
Recurrent otitis media |
"Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media." [HPO:probinson] |
— |
HP:0000388, HP:0002719 |
| HPO |
HP:0000405 |
Conductive hearing impairment |
"An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound." [HPO:probinson] |
A conductive hearing impariment with greater than 90 dB loss. |
HP:0000365, HP:0011452 |
| HPO |
HP:0000407 |
Sensorineural hearing impairment |
"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve." [HPO:probinson] |
Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve). |
HP:0000365, HP:0011389 |
| HPO |
HP:0000408 |
Progressive sensorineural hearing impairment |
"A progressive form of sensorineural hearing impairment." [HPO:probinson] |
— |
HP:0000407, HP:0001730 |
| HPO |
HP:0000410 |
Mixed hearing impairment |
"A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment." [HPO:probinson] |
— |
HP:0000405, HP:0000407 |
| HPO |
HP:0000411 |
Protruding ear |
"Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective)." [PMID:19152421] |
— |
HP:0000377 |
| HPO |
HP:0000413 |
Atresia of the external auditory canal |
"Absence or failure to form of the external auditory canal." [HPO:probinson] |
— |
HP:0000372 |
| HPO |
HP:0000414 |
Bulbous nose |
"Increased volume and globular shape of the anteroinferior aspect of the nose." [PMID:19152422] |
This is a bundled term, but as it is useful in practice it is kept here. This alteration of size and shape may be limited to the tip, but may involve the lower third of the nose. If only the width of the nasal tip is increased this should be coded as Broad nasal tip. |
HP:0000436, HP:0005105 |
| HPO |
HP:0000415 |
Abnormality of the choanae |
"Abnormality of the choanae (the posterior nasal apertures)." [HPO:probinson] |
— |
HP:0000366 |
| HPO |
HP:0000417 |
Slender nose |
— |
— |
HP:0005105 |