Phenotypes associated with the disease Olmsted syndrome 1 (OMIM:614594):
- Alopecia universalis (HP:0002289): Loss of all hair on the entire body. Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:22405088)
- Opacification of the corneal stroma (HP:0007759): Reduced transparency of the stroma of cornea. Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:22405088)
- Corneal opacity (HP:0007957): A reduction of corneal clarity. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:614594)
- Parakeratosis (HP:0001036): Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes. Evidence: TAS. (OMIM:614594)
- Nail dysplasia (HP:0002164): The presence of developmental dysplasia of the nail. Evidence: TAS. (OMIM:614594)
- Flexion contracture (HP:0001371): A flexion contracture is a bent (flexed) 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. (PMID:22405088)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 6/6. (PMID:22405088)
- Periorificial hyperkeratosis (HP:0034521): Scaling and overgrowth of horny tissue of the skin surrounding body orifices (including peri-auricular, peri-oral, peri-anal areas. Evidence: PCS. Frequency: 6/6. (PMID:22405088)
- Orthokeratosis (HP:0040162): Formation of an anuclear keratin layer. Evidence: PCS. Frequency: 3/3. (PMID:22405088)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:22405088)
- Subungual hyperkeratosis (HP:0008392): A thickening of the stratum corneum in the region beneath the nails. Evidence: TAS. (OMIM:614594)
- Autoamputation of digits (HP:0007460): The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology. Evidence: PCS. Frequency: 1/6. (PMID:22405088)
- Amniotic constriction ring (HP:0009775): Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands. Evidence: PCS. Frequency: 4/6. (PMID:22405088)
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:614594)
- Pruritus (HP:0000989): Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. Evidence: PCS. Frequency: 6/6. (PMID:22405088)
- 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. (OMIM:614594)
- Palmoplantar keratoderma (HP:0000982): Abnormal thickening of the skin of the palms of the hands and the soles of the feet. Evidence: PCS. Frequency: 6/6. (PMID:22405088)
- 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:22405088)
- Hyperparakeratosis (HP:0040009): Histological term to illustrate the combined presence of parakeratosis and hyperkeratosis. Abnormal keratinization of the epidermal stratum corneum (horny layer) with increased keratin formation and preservation of the nuclei in the superficial cells. Evidence: PCS. Frequency: 3/3. (PMID:22405088)