- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: PCS. Frequency: 1/6. (PMID:27838789)
- Natal tooth (HP:0000695): A tooth present at birth or erupting within the first month of life. Evidence: PCS. Frequency: 1/6. (PMID:27838789)
- Scarring alopecia of scalp (HP:0004552). Evidence: PCS. Frequency: 1/6. (PMID:27838789)
- Knuckle pad (HP:0032541): Knuckle pads are benign fibrofatty subcutaneous pads located over the proximal interphalangeal (PIP) joints that can be mistaken for arthritis. Rarely they affect the dorsal aspect of the metacarpophalangeal (MCP) joints. Clinically they are painless and often affect both hands in an asymmetrical pattern. Evidence: PCS. Frequency: 2/6. (PMID:27838789)
- Orthokeratosis (HP:0040162): Formation of an anuclear keratin layer. Evidence: PCS. Frequency: 1/1. (PMID:27838789)
- Subungual hyperkeratosis (HP:0008392): A thickening of the stratum corneum in the region beneath the nails. Evidence: PCS. Frequency: 3/6. (PMID:27838789)
- Acne inversa (HP:0040154): A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses. Evidence: PCS. Frequency: 6/6. (PMID:27838789)
- Keratosis pilaris (HP:0032152): An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs. Evidence: PCS. Frequency: 5/6. (PMID:27838789)
- Palmar hyperlinearity (HP:0033252): Exaggerated skin markings (dermatoglyphics) on the palms of the hand. Evidence: PCS. Frequency: 6/6. (PMID:27838789)
- Concave nasal ridge (HP:0011120): Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip. Evidence: PCS. Frequency: 1/1. (PMID:27838789)
- Hypoplastic sweat glands (HP:0007387): Underdevelopment of the sweat glands. Evidence: PCS. Frequency: 1/1. (PMID:27838789)
- Eczematoid dermatitis (HP:0000964): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: PCS. Frequency: 3/6. (PMID:27838789)
- Hypohidrosis (HP:0000966): Abnormally diminished capacity to sweat. Evidence: PCS. Frequency: 6/6. (PMID:27838789)
- Trichorrhexis nodosa (HP:0009886): Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair. Evidence: PCS. Frequency: 1/6. (PMID:27838789)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: PCS. Frequency: 5/6. (PMID:27838789)
- 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: PCS. Frequency: 3/6. (PMID:27838789)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:27838789)
- Sparse lateral eyebrow (HP:0005338): Decreased density/number and/or decreased diameter of lateral eyebrow hairs. Evidence: PCS. Frequency: 6/6. (PMID:27838789)
These phenotypes are associated with the disease ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type (OMIM:617337).