- 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: 3/3. (PMID:38433265)
- Aortic arch aneurysm (HP:0005113): An abnormal localized widening (dilatation) of the aortic arch. Evidence: PCS. Frequency: 1/1. (PMID:38433265)
- Ascending tubular aorta aneurysm (HP:0004970): An abnormal localized widening (dilatation) of the tubular part of the ascending aorta. Evidence: PCS. Frequency: 0/1. (PMID:38433265)
- Thickened mitral valve cusp (HP:6000342): An abnormally increased thickness of a leaflet of the mitral valve. Evidence: PCS. Frequency: 1/1. (PMID:38433265)
- 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: 3/3. (PMID:38433265)
- Prolonged bleeding time (HP:0003010): Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding. Evidence: PCS. Frequency: 3/3. (PMID:38433265)
- Abnormality of circulating fibrinogen (HP:0011898): An abnormality of the level of activity of circulating fibrinogen. Evidence: PCS. Frequency: 0/2. (PMID:38433265)
- Venous insufficiency (HP:0005293). Evidence: PCS. Frequency: 2/2. (PMID:38433265)
- Abnormal platelet count (HP:0011873): Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood. Evidence: PCS. Frequency: 0/3. (PMID:38433265)
- Tendon rupture (HP:0100550): Breakage (tear) of a tendon. Evidence: PCS. Frequency: 3/3. (PMID:38433265)
- Abnormal factor VIII activity (HP:0030976): A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. Evidence: PCS. Frequency: 0/2. (PMID:38433265)
- Piezogenic pedal papules (HP:0025509): Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum. Evidence: PCS. Frequency: 3/3. (PMID:38433265)
- Multiple joint dislocation (HP:0012095): Dislocation of many joints. Evidence: PCS. Frequency: 3/3. (PMID:38433265)
- Reduced von Willebrand factor activity (HP:0008330): Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. Evidence: PCS. Frequency: 0/2. (PMID:38433265)
- Abnormal prothrombin time (HP:0032199): Any deviation from the normal amount of time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. Evidence: PCS. Frequency: 0/3. (PMID:38433265)
- 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: 3/3. (PMID:38433265)
- Cardiomyopathy (HP:0001638): A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. Evidence: PCS. Frequency: 0/3. (PMID:38433265)
- 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: 0/3. (PMID:38433265)
- 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:38433265)
These phenotypes are associated with the disease Ehlers-Danlos syndrome, classic-like, 3 (OMIM:620865).