- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. (OMIM:130080)
- Palmoplantar cutis laxa (HP:0007517): Loose, wrinkled skin of hands and feet. Evidence: IEA. (OMIM:130080)
- Gingival fragility (HP:0034518): Gums that are easily damaged. Evidence: PCS. Frequency: 20/21. (PMID:27745832)
- Poor wound healing (HP:0001058): A reduced ability to heal cutaneous wounds. Evidence: IEA. (OMIM:130080)
- Generalized joint hypermobility (HP:0002761): Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:130080)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: TAS. (OMIM:130080)
- Fragile skin (HP:0001030): Skin that splits easily with minimal injury. Evidence: PCS. Frequency: 24/32. (PMID:27745832)
- Joint dislocation (HP:0001373): Displacement or malalignment of joints. Evidence: PCS. Frequency: 2/25. (PMID:27745832)
- Atrophic scars (HP:0001075): Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin. Evidence: PCS. Frequency: 21/36. (OMIM:130080;PMID:27745832)
- Gingival recession (HP:0030816): The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth. Evidence: PCS. Frequency: 29/33. (PMID:27745832)
- Intestinal perforation (HP:0031368): A hole (perforation) in the wall of the intestine. Evidence: IEA. (OMIM:130080)
- Pretibial plaque (HP:0034517): Pretibial plaques occur in a specific pattern with hyperpigmentation, atrophy or induration and scarring of the lower limbs typically over the pretibial area. Hyperpigmentation appears to develop gradually from mild, brownish hyperpigmented patches clinically in keeping with haemosiderin deposition, to indurated or atrophic plaques and can progress to cover the entire circumference of the calf. Plaques are often associated with skin fragility, whether atrophic or indurated. They are thought to be a result of extensive bruising and confluent atrophic scars because of the increased fragility of dermis and small blood vessels. Evidence: PCS. Frequency: 24/25. (PMID:27745832)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:130080)
- 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. (OMIM:130080)
- Bruising susceptibility (HP:0000978): An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. Evidence: PCS. Frequency: 29/31. (PMID:27745832)
- Soft skin (HP:0000977): Subjective impression of increased softness upon palpation of the skin. Evidence: TAS. (OMIM:130080)
- Hyperextensible skin (HP:0000974): A condition in which the skin can be stretched beyond normal, and then returns to its initial position. Evidence: PCS. Frequency: 20/27. (PMID:27745832)
- Arachnodactyly (HP:0001166): Abnormally long and slender fingers (spider fingers). Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:130080)
- Hiatus hernia (HP:0002036): The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus. Evidence: PCS. Frequency: 1/20. (PMID:27745832)
- Alveolar bone loss around teeth (HP:0410027): A decrease in the amount of alveolar bone around the root of a tooth. Evidence: TAS. (OMIM:130080)
- Tall stature (HP:0000098): A height above that which is expected according to age and gender norms. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:130080)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 9/27. (PMID:27745832)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: PCS. Frequency: 11/24. (PMID:27745832)
- Blue sclerae (HP:0000592): An abnormal bluish coloration of the sclera. Evidence: IEA. (OMIM:130080)
- Premature loss of teeth (HP:0006480): Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal. Evidence: IEA. (OMIM:130080)
- Arthralgia (HP:0002829): Joint pain. Evidence: PCS. Frequency: 10/24. (PMID:27745832)
- Periodontitis (HP:0000704): Inflammation of the periodontium. Evidence: PCS. Frequency: 30/34. (PMID:27745832)
- Umbilical hernia (HP:0001537): Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Evidence: PCS. Frequency: 2/20. (PMID:27745832)
- Prominent superficial veins (HP:0001015): A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticeable than normal. Evidence: PCS. Frequency: 9/20. (PMID:27745832)
- 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:27745832)
- Thin skin (HP:0000963): Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. Evidence: IEA. (OMIM:130080)
- Gingival bleeding (HP:0000225): Hemorrhage affecting the gingiva. Evidence: PCS. Frequency: 24/28. (PMID:27745832)
These phenotypes are associated with the disease Ehlers-Danlos syndrome, periodontal type 1 (OMIM:130080).