- Cleft palate (HP:0000175): 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). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1248)
- Mandibular prognathia (HP:0000303): Abnormal prominence of the chin related to increased length of the mandible. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1248)
- Hypoplasia of the maxilla (HP:0000327): 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. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1248)
- Depressed nasal ridge (HP:0000457): Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1248)
- Microdontia (HP:0000691): Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1248)
- Striae distensae (HP:0001065): Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1248)
- Short columella (HP:0002000): Reduced distance from the anterior border of the naris to the subnasale. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1248)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1248)
- Short nose (HP:0003196): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1248)
- Patchy distortion of vertebrae (HP:0004609). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1248)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1248)
- Abnormal nostril morphology (HP:0005288): Abnormality of the nostril. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1248)
- Vertebral clefting (HP:0008428): Schisis (cleft or cleavage) of vertebral bodies. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1248)
- Tooth agenesis (HP:0009804): The absence of one or more teeth from the normal series by a failure to develop. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1248)
- Short distal phalanx of finger (HP:0009882): Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1248)
- Aplasia/Hypoplasia of the distal phalanges of the toes (HP:0010185): Absence or underdevelopment of the distal phalanges of the toes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1248)
- Open bite (HP:0010807): Visible space between the dental arches in occlusion. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1248)
- Midface retrusion (HP:0011800): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1248)
- Decreased circulating vitamin K concentration (HP:0011892): The concentration of vitamin K in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1248)
- Flat face (HP:0012368): Absence of concavity or convexity of the face when viewed in profile. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1248)
These phenotypes are associated with the disease Maxillonasal dysplasia (ORPHA:1248).