Phenotypes associated with the disease Focal facial dermal dysplasia type III (ORPHA:1807):
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1807)
- Short philtrum (HP:0000322): Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1807)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1807)
- 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:1807)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1807)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1807)
- Lacrimation abnormality (HP:0000632): Abnormality of tear production. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1807)
- Hypopigmented skin patches (HP:0001053). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1807)
- Redundant skin (HP:0001582): Loose and sagging skin often associated with loss of skin elasticity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1807)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1807)
- Highly arched eyebrow (HP:0002553): Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1807)
- 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: Very frequent (HP:0040281). (ORPHA:1807)
- Sparse lateral eyebrow (HP:0005338): Decreased density/number and/or decreased diameter of lateral eyebrow hairs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1807)
- Prematurely aged appearance (HP:0007495). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1807)
- Multiple cafe-au-lait spots (HP:0007565): The presence of six or more cafe-au-lait spots. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1807)
- Sparse lower eyelashes (HP:0007776). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1807)
- Aplasia/Hypoplasia of the skin (HP:0008065). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1807)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1807)
- Distichiasis (HP:0009743): Double rows of eyelashes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1807)
- Abnormal hair pattern (HP:0010720): An abnormality of the distribution of hair growth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1807)
- Dimple chin (HP:0010751): A persistent midline depression of the skin over the fat pad of the chin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1807)
- Abnormality of the upper urinary tract (HP:0010935): An abnormality of the upper urinary tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1807)
- Abnormal sacroiliac joint morphology (HP:0100781): An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1807)