- High palate (HP:0000218): 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). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1927)
- Long philtrum (HP:0000343): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1927)
- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1927)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1927)
- Abnormal thumb morphology (HP:0001172): An abnormal structure of the first digit of the hand. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1927)
- Neonatal hypotonia (HP:0001319): Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1927)
- Low posterior hairline (HP:0002162): Hair on the neck extends more inferiorly than usual. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1927)
- 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:1927)
- Metacarpophalangeal joint contracture (HP:0006070): A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1927)
- Interphalangeal thumb joint contracture (HP:0009626): Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1927)
- Flat face (HP:0012368): Absence of concavity or convexity of the face when viewed in profile. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1927)
- Camptodactyly of finger (HP:0100490): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1927)
These phenotypes are associated with the disease Emery-Nelson syndrome (ORPHA:1927).