Phenotypes associated with the disease Laryngo-onycho-cutaneous syndrome (ORPHA:2407):
- Subglottic stenosis (HP:0001607). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2407)
- Skin ulcer (HP:0200042): A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2407)
- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2407)
- Delayed eruption of teeth (HP:0000684): Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2407)
- Microdontia (HP:0000691): Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2407)
- Fragile skin (HP:0001030): Skin that splits easily with minimal injury. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2407)
- Hoarse voice (HP:0001609): Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2407)
- Inspiratory stridor (HP:0005348): Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2407)
- Enamel hypoplasia (HP:0006297): Developmental hypoplasia of the dental enamel. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2407)
- Abnormal blistering of the skin (HP:0008066): The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2407)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2407)
- Corneal ulceration (HP:0012804): Disruption of the epithelial layer of the cornea with involvement of the underlying stroma. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2407)
- Abnormal periungual morphology (HP:0100803): An abnormality of the region around the nails of the fingers or toes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2407)
- Corneal erosion (HP:0200020): An erosion or abrasion of the cornea's outermost layer of epithelial cells. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2407)
- Skin erosion (HP:0200041): A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2407)
- Oral mucosal blisters (HP:0200097): Blisters arising in the mouth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2407)
- Symblepharon (HP:0430007): A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2407)
- Exuberant granulation tissue (HP:6000956): A manifestation of abnormal wound healing in which there is formation of excessive granulation tissue, with the granulation tissue rising above the level of surrounding skin and creating a raised, reddish, moist, and bumpy surface. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2407)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2407)
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2407)
- Hypochromic microcytic anemia (HP:0004840): A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2407)
- Abnormal vocal cord morphology (HP:0008777): An abnormality of the vocal cord. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2407)