Phenotypes associated with the disease Kindler syndrome (OMIM:173650):
- Anal stenosis (HP:0002025): Abnormal narrowing of the anal opening. Evidence: PCS. Frequency: 1/11. (PMID:12668616)
- Fragile skin (HP:0001030): Skin that splits easily with minimal injury. Evidence: IEA. (OMIM:173650)
- 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: 11/11. Onset: Congenital onset (HP:0003577). (PMID:12668616)
- Spotty hypopigmentation (HP:0005590). Evidence: IEA. (OMIM:173650)
- Reduced epidermal kindlin-1 expression (HP:6000714): Lower than normal amount of kindlin-1 in the epidermis. Evidence: PCS. Frequency: 3/3. (PMID:14962093)
- Ridged nail (HP:0001807): Longitudinal, linear prominences in the nail plate. Evidence: TAS. (OMIM:173650)
- Esophageal stenosis (HP:0010450): An abnormal narrowing of the lumen of the esophagus. Evidence: PCS. Frequency: 1/11. (PMID:12668616)
- Diffuse skin atrophy (HP:0007488). Evidence: IEA. (OMIM:173650)
- Palmoplantar hyperkeratosis (HP:0000972): Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. Evidence: PCS. Frequency: 4/11. (PMID:12668616)
- Phimosis (HP:0001741): The male foreskin cannot be fully retracted from the head of the penis. Evidence: PCS. Frequency: 1/11. (PMID:12668616)
- Poikiloderma (HP:0001029): Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias. Evidence: PCS. Frequency: 11/11. (PMID:12668616)
- Corneal erosion (HP:0200020): An erosion or abrasion of the cornea's outermost layer of epithelial cells. Evidence: PCS. (PMID:21683471)
- 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: PCS. Frequency: 5/11. (PMID:12668616)
- Gingivitis (HP:0000230): Inflammation of the gingiva. Evidence: PCS. Frequency: 8/11. (PMID:12668616)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: PCS. Frequency: 6/11. (PMID:12668616)
- Cutaneous photosensitivity (HP:0000992): An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. Evidence: PCS. Frequency: 8/11. (PMID:12668616)
- Dermal atrophy (HP:0004334): Partial or complete wasting (atrophy) of the skin. Evidence: PCS. Frequency: 11/11. (PMID:12668616)
- Spotty hyperpigmentation (HP:0005585). Evidence: TAS. (OMIM:173650)
- Telangiectasia of the skin (HP:0100585): Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions. Evidence: PCS. Frequency: 9/11. (PMID:12668616)
- Periodontitis (HP:0000704): Inflammation of the periodontium. Evidence: IEA. (OMIM:173650)
- Urethral stenosis (HP:0008661): Abnormal narrowing of the urethra. Evidence: PCS. Frequency: 4/22. (PMID:12668616)
- 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: TAS. (OMIM:173650)
- Symblepharon (HP:0430007): A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball. Evidence: PCS. (PMID:21683471)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:12668616)
- Oral leukoplakia (HP:0002745): A thickened white patch on the oral mucosa that cannot be rubbed off. Evidence: PCS. Frequency: 8/11. (PMID:12668616)