Phenotypes associated with the disease Focal facial dermal dysplasia type I (ORPHA:79133):
- Thick upper lip vermilion (HP:0000215): 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). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79133)
- Low anterior hairline (HP:0000294): Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79133)
- Pointed chin (HP:0000307): A marked tapering of the lower face to the chin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79133)
- Bulbous nose (HP:0000414): Increased volume and globular shape of the anteroinferior aspect of the nose. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79133)
- Depressed nasal tip (HP:0000437): Decreased distance from the nasal tip to the nasal base. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79133)
- Absent eyelashes (HP:0000561): Lack of eyelashes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79133)
- Aplasia cutis congenita (HP:0001057): A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79133)
- Atrophic scars (HP:0001075): Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79133)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79133)
- Downturned corners of mouth (HP:0002714): A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79133)
- Sparse lateral eyebrow (HP:0005338): Decreased density/number and/or decreased diameter of lateral eyebrow hairs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79133)
- Spotty hyperpigmentation (HP:0005585). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79133)
- Spotty hypopigmentation (HP:0005590). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79133)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79133)
- Distichiasis (HP:0009743): Double rows of eyelashes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79133)
- Skin dimple (HP:0010781): Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79133)
- Vertical forehead creases (HP:0011221): Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79133)