- Thickened nuchal skin fold (HP:0000474): A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:758)
- Retinopathy (HP:0000488): Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:758)
- Retinal hemorrhage (HP:0000573): Bleeding located within the retina. Retinal hemorrhages range from the smallest dot and blot hemorrhage to massive sub-hyaloid hemorrhage. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:758)
- Abnormality of the skin (HP:0000951): An abnormality of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:758)
- Angioid streaks (HP:0001102): Irregular lines in the outer retina and Bruch membrane that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but can be idiopathic. They can be associated with neovascular complexes (choroid). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:758)
- Excessive wrinkled skin (HP:0007392). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:758)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:758)
- Arterial stenosis (HP:0100545): Narrowing or constriction of the inner surface (lumen) of an artery. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:758)
- Abnormal cerebral vascular morphology (HP:0100659): An anomaly of the cerebral blood vessels. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:758)
- Lack of skin elasticity (HP:0100679). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:758)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:758)
- Striae distensae (HP:0001065): Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:758)
- Redundant skin (HP:0001582): Loose and sagging skin often associated with loss of skin elasticity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:758)
- Intermittent claudication (HP:0004417): Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:758)
- Hyperpigmented papule (HP:0025473): A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:758)
- Retinal peau d'orange (HP:0033027): A pebbly orange appearance of the fundus that is said to resemble the skin of an orange. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:758)
- Nephrocalcinosis (HP:0000121): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:758)
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:758)
- Blue sclerae (HP:0000592): An abnormal bluish coloration of the sclera. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:758)
- Abnormal thorax morphology (HP:0000765): Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:758)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:758)
- Hyperextensible skin (HP:0000974): A condition in which the skin can be stretched beyond normal, and then returns to its initial position. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:758)
- Multiple lipomas (HP:0001012): The presence of multiple lipomas (a type of benign tissue made of fatty tissue). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:758)
- Stroke (HP:0001297): Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:758)
- Subcutaneous nodule (HP:0001482): Slightly elevated lesions on or in the skin with a diameter of over 5 mm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:758)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:758)
- Sudden cardiac death (HP:0001645): The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:758)
- Aortic valve stenosis (HP:0001650): The presence of a stenosis (narrowing) of the aortic valve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:758)
- Angina pectoris (HP:0001681): Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:758)
- Restrictive cardiomyopathy (HP:0001723): Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:758)
- Abnormality of thrombocytes (HP:0001872): An abnormality of platelets. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:758)
- Postural instability (HP:0002172): A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:758)
- Gastrointestinal hemorrhage (HP:0002239): Hemorrhage affecting the gastrointestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:758)
- Transient ischemic attack (HP:0002326). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:758)
- Cerebral calcification (HP:0002514): The presence of calcium deposition within the cerebrum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:758)
- Abnormal endocardium morphology (HP:0004306): An abnormality of the endocardium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:758)
- Choroidal neovascularization (HP:0011506): Choroidal neovascularization (CNV) is the inward growth of new blood vessels arising from the choriocapillaris. Depending on the stage of development, they can be external (type 1 NV) or internal (type 2 NV) to the retinal pigment epithelium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:758)
- Metamorphopsia (HP:0012508): A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:758)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:758)
- Renovascular hypertension (HP:0100817): The presence of hypertension related to stenosis of the renal artery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:758)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:758)
These phenotypes are associated with the disease Pseudoxanthoma elasticum (ORPHA:758).