| HPO |
HP:0000458 |
Anosmia |
"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." [HPO:probinson] |
— |
HP:0004408 |
| HPO |
HP:0000460 |
Narrow nose |
"Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae." [PMID:19152422] |
Note: a small nose has both decreased height and a decreased width. These should be coded separately. |
HP:0005105 |
| HPO |
HP:0000463 |
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)." [PMID:19152422] |
The tip of the nose is upturned and is positioned superiorly to the nasal base, allowing the nares to be easily visualized from the front. With maturation and growth of the nasal ridge and tip, the nares usually become more downwardly directed. |
HP:0000429, HP:0005105, HP:0005288 |
| HPO |
HP:0000464 |
Abnormality of the neck |
"An abnormality of the neck." [HPO:probinson] |
— |
HP:0000152 |
| HPO |
HP:0000465 |
Webbed neck |
"Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline." [HPO:probinson, PMID:24523736] |
— |
HP:0000464 |
| HPO |
HP:0000466 |
Limited neck range of motion |
— |
— |
HP:0005986 |
| HPO |
HP:0000467 |
Neck muscle weakness |
"Decreased strength of the neck musculature." [HPO:probinson] |
— |
HP:0001324 |
| HPO |
HP:0000468 |
Increased adipose tissue around the neck |
"An increased amount of subcutaneous fat tissue around the neck." [HPO:probinson] |
— |
HP:0000464, HP:0009126 |
| HPO |
HP:0000470 |
Short neck |
"Diminished length of the neck." [HPO:probinson] |
— |
HP:0000464, HP:0003319 |
| HPO |
HP:0000471 |
Gastrointestinal angiodysplasia |
"Dysplasia affecting the vasculature of the gastrointestinal tract." [HPO:probinson] |
— |
HP:0004296 |
| HPO |
HP:0000472 |
Long neck |
"Increased inferior-superior length of the neck." [HPO:probinson] |
— |
HP:0000464 |
| HPO |
HP:0000473 |
Torticollis |
"Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head." [HPO:probinson] |
The word torticollis comes from Latin words meaning twisted neck. Spasmodic torticollis is a focal dystonia that affects the neck and sometimes the shoulders, leading to involuntary contractions of the neck muscles, abnormal movements and postures of the head and neck. The abnormal movements can have both tonic and clonic components and can results in pain and discomfort. Spasmodic torticollis is the most common focal dystonia. |
HP:0011006, HP:0011442, HP:0012179 |
| HPO |
HP:0000474 |
Thickened nuchal skin fold |
"A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. A measurement 6 mm or more is considered significant between 18 and 24 weeks and a measurement of 5 mm or more is considered significant at 16 to 18 weeks (PMID:16100637)." [HPO:probinson, PMID:16100637] |
A thickened nuchal fold should be distinguished from cystic hygroma, in which the skin in this area has fluid-filled loculations. A thickened nuchal fold should not be confused with nuchal translucency, which is a specific measurement of fluid in the posterior aspect of the neck at 11 to 14 weeks gestation (see practice guidelines at http://www.sogc.org). |
HP:0000464, HP:0011425 |
| HPO |
HP:0000475 |
Broad neck |
"Increased side-to-side width of the neck." [HPO:probinson] |
— |
HP:0000464 |
| HPO |
HP:0000476 |
Cystic hygroma |
"A cystic lymphatic lesion of the neck." [HPO:probinson] |
Cystic hygroma refers to a cystic lymphatic lesion, that can in principle occur anywhere in the body, but is most commonly seen in the head and neck region. The term 'Cystic hygroma' alone is generally used to refer to cystic hygroma of the neck. |
HP:0000464 |
| HPO |
HP:0000478 |
Abnormality of the eye |
"Any abnormality of the eye, including location, spacing, and intraocular abnormalities." [HPO:probinson] |
— |
HP:0000118 |
| HPO |
HP:0000479 |
Abnormal retinal morphology |
"A structural abnormality of the retina." [HPO:probinson] |
— |
HP:0001098 |
| HPO |
HP:0000480 |
Retinal coloboma |
"A notch or cleft of the retina." [HPO:probinson] |
— |
HP:0000479, HP:0000589 |
| HPO |
HP:0000481 |
Abnormal cornea morphology |
"Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber." [HPO:probinson] |
— |
HP:0004328 |
| HPO |
HP:0000482 |
Microcornea |
"A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood." [HPO:probinson] |
Note that the cornea's diameter is normally about 9.5-10.0 mm at birth and reaches 10.0-12-5 mm in adulthood. |
HP:0001120 |
| HPO |
HP:0000483 |
Astigmatism |
"A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea." [DDD:ncarter, HPO:probinson, ORCID:0000-0003-0986-4123] |
The irregular curvature associated with astigmatism means that the optical system is not symmetric about the optical axis. Most commonly the cornea is affected such that the refractive power in one meridian is less than that of the perpendicular axis. Astigmatism of significant degree causes blurry vision. |
HP:0000539, HP:0100691 |
| HPO |
HP:0000484 |
Hyperopic astigmatism |
"A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error." [HPO:probinson] |
— |
HP:0000483 |
| HPO |
HP:0000485 |
Megalocornea |
"An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age." [HPO:curators] |
— |
HP:0001120 |
| HPO |
HP:0000486 |
Strabismus |
"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error." [HPO:probinson, PMID:26319345, UManchester:psergouniotis] |
— |
HP:0000549 |
| HPO |
HP:0000487 |
obsolete Congenital strabismus |
— |
— |
— |