| HPO |
HP:0000272 |
Malar flattening |
"Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation." [HPO:probinson, ORCID:0000-0001-5889-4463, PMID:19125436] |
The malar process is the most medial and superior portion of the bony midface, articulating with the maxilla and temporal and sphenoid bones, contiguous with the lateral boundary of the nasal bridge. The term malar hypoplasia is no longer preferred because surface examination cannot distinguish hypoplasia from hypotrophy. {xref="ORCID:0000-0001-5889-4463"} |
HP:0012369 |
| HPO |
HP:0000273 |
Facial grimacing |
— |
— |
HP:0005324 |
| HPO |
HP:0000274 |
Small face |
"A face that is short (HP:0011219) and narrow (HP:0000275)." [HP:probinson] |
This term represents a combination of two terms, short face and narrow face. |
HP:0001999 |
| HPO |
HP:0000275 |
Narrow face |
"Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective)." [PMID:19125436] |
Objective measurement of the upper facial width is made with spreading calipers. The tips of the calipers are passed over the zygomatic arches until the maximum width is determined. Objective measurement of the lower faces is made with spreading calipers, with the tips firmly pressed against the inferomedial surface of the angle of the mandible. |
HP:0000274 |
| HPO |
HP:0000276 |
Long face |
"Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective)." [PMID:19125436] |
Objective measurement of the face height is made with sliding calipers from the nasion, just above the depth of the nasal root, to the gnathion, the inferior border of the mandible, both in the midline. Note that long face is distinct from narrow face. |
HP:0100729 |
| HPO |
HP:0000277 |
Abnormality of the mandible |
"Any abnormality of the mandible, the bone of the lower jaw." [HPO:probinson] |
— |
HP:0030791 |
| HPO |
HP:0000278 |
Retrognathia |
"An abnormality in which the mandible is mislocalised posteriorly." [HPO:probinson] |
— |
HP:0000277 |
| HPO |
HP:0000280 |
Coarse facial features |
"Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues." [PMID:19125436] |
— |
HP:0001999 |
| HPO |
HP:0000282 |
Facial edema |
— |
— |
HP:0000969, HP:0011799 |
| HPO |
HP:0000283 |
Broad face |
"Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective)." [PMID:19125436] |
Note that broad face is distinct from round face. |
HP:0100729 |
| HPO |
HP:0000284 |
obsolete Abnormality of the ocular region |
— |
— |
— |
| HPO |
HP:0000286 |
Epicanthus |
"A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus." [HPO:probinson] |
In extreme cases, the skin fold can start as high as the eyebrow; this is called epicanthus superciliaris. |
HP:0000492 |
| HPO |
HP:0000287 |
Increased facial adipose tissue |
"An increased amount of subcutaneous fat tissue in the face." [HPO:probinson] |
— |
HP:0000291 |
| HPO |
HP:0000288 |
Abnormality of the philtrum |
"An abnormality of the philtrum." [HPO:probinson] |
The paralabial region is the region surrounding the lips and includes the philtrum. |
HP:0000177 |
| HPO |
HP:0000289 |
Broad philtrum |
"Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum." [PMID:19152422] |
The mean width of the philtrum was found to be 7 mm in infants by Franz and Sokol [1971] and 9.7 mm in adults by Ward and Jamison [1991]. Measuring width of the philtrum is even more inaccurate than measuring length (vide supra). A broad philtrum may be associated with reduced ridge prominence or a shallow groove, a Smooth philtrum, which should be assessed and coded separately. It may be found with a broad nasal septum. |
HP:0000288 |
| HPO |
HP:0000290 |
Abnormality of the forehead |
"An anomaly of the forehead." [HPO:probinson] |
— |
HP:0000271 |
| HPO |
HP:0000291 |
Abnormality of facial adipose tissue |
— |
— |
HP:0009124, HP:0011799 |
| HPO |
HP:0000292 |
Loss of facial adipose tissue |
"Loss of normal subcutaneous fat tissue in the face." [HPO:curators] |
— |
HP:0000291, HP:0008887 |
| HPO |
HP:0000293 |
Full cheeks |
"Increased prominence or roundness of soft tissues between zygomata and mandible." [DDD:awilkie] |
— |
HP:0004426 |
| HPO |
HP:0000294 |
Low anterior hairline |
"Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella." [PMID:19125436] |
This feature gives the appearance of a short forehead. It is distinct from hirsutism of the forehead. In the latter, orientation of hair growth is lateral and texture and density of hair differs from scalp hair. |
HP:0000599 |
| HPO |
HP:0000295 |
Doll-like facies |
"A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin." [HPO:probinson] |
This term represents a bundle of phenotypic features and is kept for historical reasons. It is preferable to annotate the individual clinical findings precisely. |
HP:0001999 |
| HPO |
HP:0000297 |
Facial hypotonia |
"Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve)." [HPO:probinson] |
— |
HP:0000301, HP:0001252 |
| HPO |
HP:0000298 |
Mask-like facies |
"A lack of facial expression often with staring eyes and a slightly open mouth." [HPO:probinson] |
Mask-like facies can be seen in many neurological disorders such as Parkinsonism and myotonic dystrophy. |
HP:0004673 |
| HPO |
HP:0000300 |
Oval face |
"A face with a rounded and slightly elongated outline." [HPO:probinson] |
— |
HP:0001999 |
| HPO |
HP:0000301 |
Abnormality of facial musculature |
"An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve)." [HPO:probinson] |
Facial muscles control facial expression and are innervated by the seventh cranial nerve. Facial muscles around the eye are responsible for eye blink and eyelid closure. |
HP:0011799, HP:0011805 |