Phenotypes associated with the disease Ehlers-Danlos syndrome, periodontal type 2 (OMIM:617174):
- Gingival fragility (HP:0034518): Gums that are easily damaged. Evidence: PCS. Frequency: 26/28. (PMID:27745832)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 14/51. (PMID:27745832)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. (PMID:27745832)
- Colon cancer (HP:0003003). Evidence: PCS. Frequency: 2/36. (PMID:27745832)
- Fragile skin (HP:0001030): Skin that splits easily with minimal injury. Evidence: PCS. Frequency: 44/52. (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: 38/56. (PMID:27745832)
- Joint dislocation (HP:0001373): Displacement or malalignment of joints. Evidence: PCS. Frequency: 43/53. (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: 61/65. (PMID:27745832)
- 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: 50/76. (PMID:27745832)
- Arthralgia (HP:0002829): Joint pain. Evidence: PCS. Frequency: 13/39. (PMID:27745832)
- Periodontitis (HP:0000704): Inflammation of the periodontium. Evidence: PCS. Frequency: 75/83. (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: 3/45. (PMID:27745832)
- Atypical scarring of skin (HP:0000987): Atypically scarred skin . Evidence: PCS. Frequency: 29/55. (PMID:27745832)
- 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: 58/63. (PMID:27745832)
- Nephroblastoma (HP:0002667): The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. Evidence: PCS. Frequency: 1/36. (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: 14/42. (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)
- 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: 38/54. (PMID:27745832)
- Gingival bleeding (HP:0000225): Hemorrhage affecting the gingiva. Evidence: PCS. Frequency: 51/58. (PMID:27745832)