- Corneal opacity (HP:0007957): A reduction of corneal clarity. Evidence: TAS. (OMIM:602562)
- 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. (OMIM:602562)
- Anteverted nares (HP:0000463): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: TAS. (OMIM:602562)
- Flat face (HP:0012368): Absence of concavity or convexity of the face when viewed in profile. Evidence: TAS. (OMIM:602562)
- Smooth philtrum (HP:0000319): Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border. Evidence: TAS. (OMIM:602562)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: TAS. (OMIM:602562)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. (OMIM:602562)
- Large fontanelles (HP:0000239): In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. Evidence: TAS. (OMIM:602562)
- Ectropion (HP:0000656): An outward turning (eversion) or rotation of the eyelid margin. Evidence: IEA. (OMIM:602562)
- Long palpebral fissure (HP:0000637): Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures. Evidence: TAS. (OMIM:602562)
- Sporadic (HP:0003745): Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. Evidence: TAS. (OMIM:602562)
- Round face (HP:0000311): The facial appearance is more circular than usual as viewed from the front. Evidence: TAS. (OMIM:602562)
- Posteriorly rotated ears (HP:0000358): A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). Evidence: TAS. (OMIM:602562)
- Oligodontia (HP:0000677): The absence of six or more teeth from the normal series by a failure to develop. Evidence: TAS. (OMIM:602562)
- Hemangioma (HP:0001028): A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma). Evidence: IEA. (OMIM:602562)
- Wide mouth (HP:0000154): Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). Evidence: TAS. (OMIM:602562)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. (OMIM:602562)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: TAS. (OMIM:602562)
- Thick eyebrow (HP:0000574): Increased density/number and/or increased diameter of eyebrow hairs. Evidence: TAS. (OMIM:602562)
- Keratitis (HP:0000491): Inflammation of the cornea. Evidence: TAS. (OMIM:602562)
- Mandibulofacial dysostosis (HP:0005321): A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations. Evidence: IEA. (OMIM:602562)
- Conjunctivitis (HP:0000509): Inflammation of the conjunctiva. Evidence: TAS. (OMIM:602562)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: TAS. (OMIM:602562)
- Synophrys (HP:0000664): Meeting of the medial eyebrows in the midline. Evidence: TAS. (OMIM:602562)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. (OMIM:602562)
These phenotypes are associated with the disease mandibulofacial dysostosis-macroblepharon-macrostomia syndrome (OMIM:602562).