| HPO |
HP:0000303 |
Mandibular prognathia |
"Abnormal prominence of the chin related to increased length of the mandible." [HPO:probinson] |
— |
HP:0000277, HP:0000306 |
| HPO |
HP:0000306 |
Abnormality of the chin |
"An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw." [HPO:probinson, PMID:19125436] |
— |
HP:0000271 |
| HPO |
HP:0000307 |
Pointed chin |
"A marked tapering of the lower face to the chin." [PMID:19125436] |
The two rami of the mandible meet at an acute angle. |
HP:0000306 |
| HPO |
HP:0000308 |
Microretrognathia |
"A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly." [HPO:probinson] |
— |
HP:0000278, HP:0000347 |
| HPO |
HP:0000309 |
Abnormality of the midface |
"An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface." [HPO:probinson, PMID:19125436] |
— |
HP:0000271 |
| HPO |
HP:0000311 |
Round face |
"The facial appearance is more circular than usual as viewed from the front." [PMID:19125436] |
— |
HP:0001999 |
| HPO |
HP:0000315 |
Abnormality of the orbital region |
— |
— |
HP:0000271 |
| HPO |
HP:0000316 |
Hypertelorism |
"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes)." [PMID:19125427] |
— |
HP:0100886 |
| HPO |
HP:0000317 |
Facial myokymia |
"Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve)." [HPO:curators] |
Facial myokymia may be caused by a plaque of multiple sclerosis or have other causes. |
HP:0000301, HP:0002411 |
| HPO |
HP:0000319 |
Smooth philtrum |
"Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border." [PMID:19152422] |
There is a spectrum of this finding from total absence of the philtral ridges to a some prominence of the ridges. The central groove varies from absent to shallow. Normal values for the frequency of smooth philtrum are available. Grading of the smoothness of the philtrum, used in the assessment of Fetal Alcohol Syndrome, has been developed. This finding is greatly influenced by the facial expression, and care should be taken to evaluate the philtrum when the face is in a neutral position. A smooth philtrum can be associated with a Long philtrum. However, the two findings should be coded separately. |
HP:0000288 |
| HPO |
HP:0000320 |
Bird-like facies |
— |
— |
HP:0001999 |
| HPO |
HP:0000321 |
Square face |
"Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance." [PMID:19125436] |
— |
HP:0001999 |
| HPO |
HP:0000322 |
Short philtrum |
"Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border." [PMID:19152422] |
— |
HP:0000288 |
| HPO |
HP:0000324 |
Facial asymmetry |
"An abnormal difference between the left and right sides of the face." [HPO:probinson] |
— |
HP:0001999 |
| HPO |
HP:0000325 |
Triangular face |
"Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin." [DDD:jclayton-smith, PMID:19125436] |
— |
HP:0001999 |
| HPO |
HP:0000326 |
Abnormality of the maxilla |
"An abnormality of the Maxilla (upper jaw bone)." [HPO:probinson] |
— |
HP:0030791 |
| HPO |
HP:0000327 |
Hypoplasia of the maxilla |
"Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region." [HPO:probinson] |
— |
HP:0000326 |
| HPO |
HP:0000329 |
Facial hemangioma |
"Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face." [HPO:curators] |
— |
HP:0001028, HP:0011799 |
| HPO |
HP:0000331 |
Short chin |
"Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin." [HPO:probinson, PMID:19125436] |
The term "micrognathia" should be used when the chin is both short (vertical dimension) and narrow (horizontal dimension). |
HP:0000306 |
| HPO |
HP:0000336 |
Prominent supraorbital ridges |
"Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones." [PMID:19125436] |
— |
HP:0100538 |
| HPO |
HP:0000337 |
Broad forehead |
"Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead." [PMID:19125436] |
Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. Note that this term should not be confused with prominent forehead. |
HP:0000290 |
| HPO |
HP:0000338 |
Hypomimic face |
"A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation." [HPO:probinson] |
The movement and position of facial muscles are often interpreted as expressing emotions. Individuals with hypomimic face may be perceived as expressing less emotion than normal. |
HP:0000301, HP:0004673 |
| HPO |
HP:0000339 |
Pugilistic facies |
"Coarse facial features reminiscent of those of a boxer." [HPO:probinson] |
— |
HP:0000280 |
| HPO |
HP:0000340 |
Sloping forehead |
"Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view." [PMID:19125436] |
Measurement requires an angle meter, inclined on the anterior surface of the forehead, in the midline, along a line connecting the hairline to the glabella, compared to the vertical. |
HP:0000290 |
| HPO |
HP:0000341 |
Narrow forehead |
"Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective)." [PMID:19125436] |
A reduced distance between the temporal regions (temples) on each side of the head to one another. Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. |
HP:0000290 |