- Milia (HP:0001056): Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin. Evidence: PCS. (PMID:24664640)
- Milia (HP:0001056): Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin. Evidence: PCS. Frequency: 8/8. Onset: Congenital onset (HP:0003577). (PMID:26932190)
- Hypermelanotic macule (HP:0001034): A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size. Evidence: PCS. Frequency: 5/8. (PMID:26932190)
- Flexion contracture of digit (HP:0030044): A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: PCS. Frequency: 8/8. (PMID:26932190)
- Cutaneous syndactyly of toes (HP:0010621): A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:129200)
- Epidermal acanthosis (HP:0025092): Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin). Evidence: TAS. (OMIM:129200)
- Acral blistering (HP:0031045): Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet). Evidence: PCS. Frequency: 11/14. Onset: Neonatal onset (HP:0003623). (PMID:24664640;PMID:26932190)
- 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: 7/8. (PMID:26932190)
- Tapered finger (HP:0001182): The gradual reduction in girth of the finger from proximal to distal. Evidence: IEA. (OMIM:129200)
- Palmoplantar hypohidrosis (HP:0034012): Decreased sweating on the palms and soles. Evidence: PCS. Frequency: 3/6. Onset: Adult onset (HP:0003581). (PMID:24664640)
- Palmoplantar hypohidrosis (HP:0034012): Decreased sweating on the palms and soles. Evidence: PCS. Frequency: 8/8. (PMID:26932190)
- Ectodermal dysplasia (HP:0000968): Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. Evidence: IEA. (OMIM:129200)
- Single transverse palmar crease (HP:0000954): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: PCS. (PMID:26932190)
- Adermatoglyphia (HP:0007455). Evidence: PCS. Frequency: 15/15. Onset: Congenital onset (HP:0003577). (PMID:24664640;PMID:26932190)
- 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: 1/8. (PMID:26932190)
- Palmoplantar keratoderma (HP:0000982): Abnormal thickening of the skin of the palms of the hands and the soles of the feet. Evidence: PCS. Frequency: 2/8. (PMID:26932190)
- 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:24664640)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 8/8. (PMID:26932190)
These phenotypes are associated with the disease absence of fingerprints-congenital milia syndrome (OMIM:129200).