- Median cleft upper lip (HP:0000161): A type of cleft lip presenting as a midline (median) gap in the upper lip. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:401942)
- Cleft upper lip (HP:0000204): A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:401942)
- Abnormal mandible morphology (HP:0000277): Any abnormality of the mandible, the bone of the lower jaw. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:401942)
- Abnormal midface morphology (HP:0000309): 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. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:401942)
- Abnormal maxilla morphology (HP:0000326): An abnormality of the Maxilla (upper jaw bone). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:401942)
- Diastema (HP:0000699): Increased space between two adjacent teeth in the same dental arch. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:401942)
- Cleft lower lip (HP:0010281): A gap in the lower lip. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:401942)
- Fusion of gums (HP:0012292): A congenital defect with an abnormal joining of the gums of the upper and lower jaw. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:401942)
- Irregular dentition (HP:0040079). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:401942)
- Abnormality of orbicularis oris muscle (HP:3000010): An abnormality of an orbicularis oris muscle. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:401942)
These phenotypes are associated with the disease Familial median cleft of the upper and lower lips (ORPHA:401942).