| HPO |
HP:0000174 |
Abnormal palate morphology |
"Any abnormality of the palate, i.e., of roof of the mouth." [HPO:probinson] |
— |
HP:0000163 |
| HPO |
HP:0000175 |
Cleft palate |
"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate)." [HPO:probinson] |
Cleft palate is a developmental defect that occurs between the 7th and 12th week of pregnancy. Normally, the palatine processes fuse during this time to form the soft and hard palate. A failure of fusion results in a cleft palate. The clinical spectrum ranges from bifid uvula, to (incomplete or complete) cleft of the soft palate, up to (complete or incomplete) cleft of both the soft and hard palate. |
HP:0000202, HP:0100737 |
| HPO |
HP:0000176 |
Submucous cleft hard palate |
"Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate." [HPO:probinson, PMID:19779505] |
— |
HP:0410031 |
| HPO |
HP:0000177 |
Abnormality of upper lip |
"An abnormality of the upper lip." [HPO:probinson] |
— |
HP:0000159 |
| HPO |
HP:0000178 |
Abnormality of lower lip |
"An abnormality of the lower lip." [HPO:probinson] |
— |
HP:0000159 |
| HPO |
HP:0000179 |
Thick lower lip vermilion |
"Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective)." [HPO:curators, 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. The lower lip is typically thicker than the upper one. The height of the vermilion of the lower lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. When the vermilion is thick, it is more convex and more everted than usual on profile view, but that should be assessed separately. |
HP:0000178, HP:0012471 |
| HPO |
HP:0000180 |
Lobulated tongue |
"Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour." [PMID:19125428] |
Lobulated tongue can bilobed, trilobed, or show multiple lobes. |
HP:0030809 |
| HPO |
HP:0000182 |
Movement abnormality of the tongue |
— |
— |
HP:0030810 |
| HPO |
HP:0000183 |
Difficulty in tongue movements |
— |
— |
HP:0000182 |
| HPO |
HP:0000185 |
Cleft soft palate |
"Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency." [HPO:curators] |
— |
HP:0000175, HP:0100736 |
| HPO |
HP:0000187 |
Broad alveolar ridges |
— |
— |
HP:0006477 |
| HPO |
HP:0000188 |
Short upper lip |
"Decreased width of the upper lip." [HPO:probinson] |
— |
HP:0000177 |
| HPO |
HP:0000189 |
Narrow palate |
"Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective)." [PMID:19125428] |
Palatal width is measured as the distance between the maxillary first permanent molar on the right and left sides, at the lingual cervical line, using a specific device. Palate width is typically assessed subjectively in routine clinical practice. Narrowing is often associated with a High palate, but this should be assessed and coded separately. Gingival overgrowth can give the impression of a narrow palate but should be distinguished and coded separately. The term gothic palate is used to indicate that the roof of the palate is not round but rather has an inverted V-shape, and therefore, only the upper part of the palate is narrow. |
HP:0000174 |
| HPO |
HP:0000190 |
Abnormal oral frenulum morphology |
"An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity." [HPO:probinson, PMID:23633765] |
A frenulum is a small frenum. There are several frena that are usually present in a normal oral cavity, most notably the maxillary labial frenum, the mandibular labial frenum, and the lingual frenum. |
HP:0000163 |
| HPO |
HP:0000191 |
Accessory oral frenulum |
"Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip." [PMID:19125428] |
This finding is assessed by gently retracting the oral mucosa from the alveolar ridge. Typically there is a single maxillary and a single mandibular frenulum located in the midline between the two central incisors. Abnormalities of the alveolar ridges may accompany accessory frenula, but these should be assessed separately. |
HP:0000190 |
| HPO |
HP:0000193 |
Bifid uvula |
"Uvula separated into two parts most easily seen at the tip." [PMID:19125428] |
— |
HP:0000172, HP:0000185 |
| HPO |
HP:0000194 |
Open mouth |
"A facial appearance characterized by a permanently or nearly permanently opened mouth." [HPO:probinson] |
— |
HP:0011338 |
| HPO |
HP:0000196 |
Lower lip pit |
"Depression located on the vermilion of the lower lip, usually paramedian." [HPO:sdoelken, PMID:19125428] |
A lip pit may be connected by a fistula to mucous minor salivary glands in the lower lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commisure (cheilon) are distinct from lip pits (see Commissural pit). |
HP:0000178, HP:0100269 |
| HPO |
HP:0000197 |
Abnormal parotid gland morphology |
"Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear." [HPO:curators] |
— |
HP:0010286 |
| HPO |
HP:0000198 |
Absence of Stensen duct |
— |
— |
HP:0000197 |
| HPO |
HP:0000199 |
Tongue nodules |
— |
— |
HP:0030809 |
| HPO |
HP:0000200 |
Short lingual frenulum |
"The presence of an abnormally short lingual frenulum." [HPO:probinson] |
— |
HP:0000190 |
| HPO |
HP:0000201 |
Pierre-Robin sequence |
"Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate." [HPO:probinson] |
— |
HP:0031816 |
| HPO |
HP:0000202 |
Oral cleft |
"The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately." [HPO:probinson, PMID:21331089] |
— |
HP:0000163 |
| HPO |
HP:0000204 |
Cleft upper lip |
"A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [HPO:probinson] |
— |
HP:0000177, HP:0410030 |