- Keratoconus (HP:0000563): A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex. Evidence: IEA. (OMIM:130050)
- Dermal translucency (HP:0010648): An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility. Evidence: PCS. Frequency: 3/3. (PMID:26029576;PMID:29216800)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: IEA. (OMIM:130050)
- Diffuse alveolar hemorrhage (HP:0025420): A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen. Evidence: PCS. Frequency: 1/1. (PMID:22940417)
- Cystocele (HP:0100645): Anterior vaginal wall prolapse with bulging of the bladder into the vagina. Evidence: IEA. (OMIM:130050)
- Hemothorax (HP:0012151): The presence of blood in the pleural space. Evidence: PCS. Frequency: 3/4. (PMID:20707836;PMID:11843319)
- Varicose veins (HP:0002619): Enlarged and tortuous veins. Evidence: PCS. (PMID:29381997)
- Arterial rupture (HP:0025019): Sudden breakage of an artery leading to leakage of blood from the circulation. Evidence: PCS. (PMID:10706896)
- Molluscoid pseudotumors (HP:0000993): Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees. Evidence: IEA. (OMIM:130050)
- Foot acroosteolysis (HP:0001842). Evidence: IEA. (OMIM:130050)
- Hypermobility of interphalangeal joints (HP:0005620): The ability of the interphalangeal joints to move beyond their normal range of motion. Evidence: PCS. Frequency: 2/2. (PMID:22940417;PMID:29216800)
- 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: 1/1. (PMID:22940417)
- Premature delivery because of cervical insufficiency or membrane fragility (HP:0005267). Evidence: IEA. (OMIM:130050)
- Carotid cavernous fistula (HP:0031157): An abnormal connection between a carotid artery and the cavernous sinus. Evidence: PCS. Frequency: 27/638. (PMID:24922459)
- Descending aortic dissection (HP:0012499): A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. Evidence: PCS. Frequency: 1/3. (PMID:20707836)
- Pulmonary bulla (HP:0032446): Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema. Evidence: PCS. Frequency: 2/3. (PMID:26029576;PMID:29216800)
- Pulmonary bleb (HP:0032447): A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura. Evidence: PCS. Frequency: 2/9. (PMID:20500229)
- Osteolytic defects of the phalanges of the hand (HP:0009771): Dissolution or degeneration of bone tissue of the phalanges of the hand. Evidence: IEA. (OMIM:130050)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: PCS. Frequency: 1/4. (PMID:4023980)
- Spontaneous pneumothorax (HP:0002108): Pneumothorax occurring without traumatic injury to the chest or lung. Evidence: PCS. Frequency: 1/1. (PMID:29381997)
- Pneumothorax (HP:0002107): Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung. Evidence: PCS. Frequency: 2/2. (PMID:22940417;PMID:32471395)
- 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:26029576)
- Hemoptysis (HP:0002105): Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. Evidence: PCS. Frequency: 6/10. (PMID:22940417;PMID:4023980;PMID:26029576;PMID:32471395;PMID:29216800;PMID:11843319)
- Absent earlobe (HP:0000387): Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura. Evidence: IEA. (OMIM:130050)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: 11/11. (OMIM:130050;PMID:29216800)
- Fragile skin (HP:0001030): Skin that splits easily with minimal injury. Evidence: IEA. (OMIM:130050)
- Cigarette-paper scars (HP:0001073): Thin (atrophic) and wide scars. Evidence: IEA. (OMIM:130050)
- Ecchymosis (HP:0031364): A purpuric lesion that is larger than 1 cm in diameter. Evidence: PCS. (PMID:26029576)
- Finger joint hypermobility (HP:0006094). Evidence: PCS. Frequency: 2/2. (PMID:26029576)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 1/1. (PMID:11843319)
- Narrow nasal ridge (HP:0000418): Decreased width of the nasal ridge. Evidence: PCS. (PMID:17640391)
- Metacarpophalangeal joint hyperextensibility (HP:0006099): Increased mobility of one ore more metacarpophalangeal joint. Evidence: PCS. Frequency: 3/3. (PMID:22940417;PMID:32471395;PMID:29216800)
- Uterine prolapse (HP:0000139): The presence of prolapse of the uterus. Evidence: IEA. (OMIM:130050)
- 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: 11/11. (PMID:26029576;PMID:29216800)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: PCS. Frequency: 1/2. (PMID:26029576)
- Ascending aortic dissection (HP:0004933): A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. Evidence: PCS. Frequency: 1/1. (PMID:22940417)
- 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: 2/2. (PMID:22940417;PMID:32471395)
- Recurrent intrapulmonary hemorrhage (HP:0006535): A recurrent hemorrhage occurring within the lung. Evidence: PCS. (PMID:20500229)
- Combined cystic and ground-glass pattern on pulmonary HRCT (HP:0025395): Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography,. Evidence: PCS. Frequency: 1/1. (PMID:29381997)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: PCS. (PMID:17640391)
- Thin vermilion border (HP:0000233): Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips). Evidence: PCS. (PMID:17640391)
- Emphysema (HP:0002097). Evidence: PCS. Frequency: 8/9. (PMID:20500229)
- Alopecia of scalp (HP:0002293). Evidence: IEA. (OMIM:130050)
- Nodular pattern on pulmonary HRCT (HP:0025392): A nodular pattern is characterized on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter. Evidence: PCS. Frequency: 1/1. (PMID:32471395)
- Cervical insufficiency (HP:0030009): A cervix that shows a painless dilation and shortening during the second trimester of pregnancy with resultant recurrent pregnancy loss or delivery is considered incompetent. Evidence: IEA. (OMIM:130050)
- 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:130050)
- Periodontitis (HP:0000704): Inflammation of the periodontium. Evidence: IEA. (OMIM:130050)
- Uterine rupture (HP:0100718). Evidence: PCS. (PMID:10706896)
- Hypermobility of distal interphalangeal joints (HP:0006201). Evidence: IEA. (OMIM:130050)
- Repeated pneumothoraces (HP:0006522). Evidence: PCS. Frequency: 2/5. (PMID:4023980;PMID:32471395)
- Dilatation of the cerebral artery (HP:0004944): The presence of a localized dilatation or ballooning of a cerebral artery. Evidence: IEA. (OMIM:130050)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: PCS. Frequency: 1/1. (PMID:29381997)
- Mitral valve prolapse (HP:0001634): One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. Evidence: PCS. (PMID:17640391)
These phenotypes are associated with the disease autosomal dominant Ehlers-Danlos syndrome, vascular type (OMIM:130050).