HPO
Db Link Name Definition Comment Is a
HPO HP:0000205 Pursed lips "An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance." [HPO:probinson] HP:0011338
HPO HP:0000206 Glossitis "Inflammation of the tongue." [HPO:sdoelken] HP:0030809
HPO HP:0000207 Triangular mouth "The presence of a triangular form of the mouth." [HPO:probinson] HP:0011338
HPO HP:0000211 Trismus "Limitation in the ability to open the mouth." [HPO:curators] HP:0000277
HPO HP:0000212 Gingival overgrowth "Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown." [PMID:19125428] This finding is to be distinguished from overgrowth of the alveolar ridge. HP:0000168
HPO HP:0000214 Lip telangiectasia "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips." [HPO:probinson] HP:0000159, HP:0000228
HPO HP:0000215 Thick upper lip vermilion "Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective)." [PMID:19125428] Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or utilize the Likert scale of Astley and Clarren [2000] (Fig. 17). The vermilion of the upper lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thickness of the upper lip vermilion is sensitive to the facial expression. On profile view, a thick vermilion is more convex than usual. HP:0011339, HP:0012471
HPO HP:0000216 Broad secondary alveolar ridge HP:0000187
HPO HP:0000217 Xerostomia "Dryness of the mouth due to salivary gland dysfunction." [HPO:probinson] HP:0100755
HPO HP:0000218 High palate "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [PMID:19125428] The measuring device for this assessment is described in (Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers). A high palate is often associated with a narrow palate. However, a narrow palate can easily give a false appearance of a high palate. Height and width of the palate should be assessed and coded separately. We do not recommend the subjective determination because this term can be overused and\napplied inaccurately. HP:0000174
HPO HP:0000219 Thin upper lip vermilion "Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective)." [PMID:19125428] Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or use the Likert scale for Caucasians and African Americans [Astley and Clarren, 2000]. The height of the vermilion of the upper lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thinness of the upper lip vermilion is sensitive to facial expression. On profile view, a thin vermilion is less convex than usual. A thin upper lip vermilion may be associated with a smooth philtrum and an absence of the Cupid's bow, but these should be assessed separately. HP:0000233, HP:0011339
HPO HP:0000220 Velopharyngeal insufficiency "Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech." [DDD:jhurst] HP:0100736
HPO HP:0000221 Furrowed tongue "Accentuation of the grooves on the dorsal surface of the tongue." [PMID:19125428] Usually there is a midline groove of the tongue with smaller radiating grooves. The deep furrows may extend to the lateral borders. They may follow a regular geometric pattern or be irregular. A furrowed tongue occurs in 10-25% of individuals but is rare in children. HP:0030809
HPO HP:0000222 Gingival hyperkeratosis "Hyperkeratosis of the gingiva." [HPO:ibailleulforestier] The condition results in the teeth being partially or totally engulfed by keratinized gingiva, causing aesthetic and functional problems. HP:0000168, HP:0000962
HPO HP:0000223 Abnormality of taste sensation HP:0012638, HP:0030810
HPO HP:0000224 Hypogeusia "A decreased ability to perceive flavor." [] HP:0000223
HPO HP:0000225 Gingival bleeding "Hemorrhage affecting the gingiva." [HPO:ibailleulforestier] HP:0000168, HP:0001892
HPO HP:0000227 Tongue telangiectasia "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue." [HPO:probinson] HP:0000228, HP:0030809
HPO HP:0000228 Oral cavity telangiectasia "Presence of telangiectases in the oral cavity." [HPO:probinson] HP:0011830, HP:0100579
HPO HP:0000230 Gingivitis "Inflammation of the gingiva." [HPO:probinson] HP:0000168
HPO HP:0000232 Everted lower lip vermilion "An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view." [PMID:19125428] In frontal view, with the face relaxed, the apparent height of the lower lip vermilion is excessive and the lower incisors may be visible. On profile view, the vermilion is more convex than usual. An everted lower lip may be viewed as pouting, but this designation is a functional term. HP:0000178, HP:0012472
HPO HP:0000233 Thin vermilion border "Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips)." [HPO:probinson, PMID:19125428] The vermilion is the red part of the lips, and the vermilion border is the rim of paler skin that demarcates the vermilion from the rest of the skin of the face. HP:0000159
HPO HP:0000234 Abnormality of the head "An abnormality of the head." [HPO:probinson] HP:0000152
HPO HP:0000235 Abnormality of the fontanelles or cranial sutures "Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments)." [HPO:probinson, PMID:12825844] Fontanels are the fibrous, membrane-covered gaps created when more than two cranial bones are juxtaposed, as opposed to sutures, which are narrow seams of fibrous connective tissue that separate the flat bones of the skull. At birth, an infant has six fontanels (the anterior and posterior, two mastoid, and two sphenoid). The anterior fontanel is the largest and most important for clinical evaluation. The average size of the anterior fontanel is 2.1 cm, and the median time of closure is 13.8 months. HP:0002683
HPO HP:0000236 Abnormality of the anterior fontanelle "An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures." [HPO:curators] HP:0011328