- Congenital giant melanocytic nevus (HP:0005600): The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child. Evidence: TAS. (OMIM:137550)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: TAS. (OMIM:137550)
- 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:137550)
- Prominence of the premaxilla (HP:0010759): Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla. Evidence: TAS. (OMIM:137550)
- Deep philtrum (HP:0002002): Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border. Evidence: TAS. (OMIM:137550)
- Everted lower lip vermilion (HP:0000232): An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. Evidence: TAS. (OMIM:137550)
- 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:137550)
- Typified by somatic mosaicism (HP:0001442): Description of conditions in which affected individuals typically display somatic mosaicism, i.e., genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. In many conditions typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively or predominantly mosaic. Evidence: PCS. (PMID:23392294)
- Full cheeks (HP:0000293): Increased prominence or roundness of soft tissues between zygomata and mandible. Evidence: TAS. (OMIM:137550)
- Open mouth (HP:0000194): A facial appearance characterized by a permanently or nearly permanently opened mouth. Evidence: TAS. (OMIM:137550)
- Nevus spilus (HP:0025510): A tan, regularly bordered patch with darker macules within the lesion. Evidence: IEA. (OMIM:137550)
- 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. (OMIM:137550)
- Cutaneous melanoma (HP:0012056): The presence of a melanoma of the skin. Evidence: TAS. (OMIM:137550)
- Narrow nasal ridge (HP:0000418): Decreased width of the nasal ridge. Evidence: TAS. (OMIM:137550)
- Prominent forehead (HP:0011220): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: TAS. (OMIM:137550)
- Periorbital fullness (HP:0000629): Increase in periorbital soft tissue. Evidence: TAS. (OMIM:137550)
- 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: IEA. (OMIM:137550)
- Broad forehead (HP:0000337): Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. Evidence: TAS. (OMIM:137550)
- Broad nasal tip (HP:0000455): Increase in width of the nasal tip. Evidence: TAS. (OMIM:137550)
- Round face (HP:0000311): The facial appearance is more circular than usual as viewed from the front. Evidence: TAS. (OMIM:137550)
These phenotypes are associated with the disease large congenital melanocytic nevus (OMIM:137550).