Phenotypes associated with the disease Hypermobile Ehlers-Danlos syndrome (ORPHA:285):
- 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: Very frequent (HP:0040281). (ORPHA:285)
- Acrocyanosis (HP:0001063): Bluish discoloration of the skin of the hands or feet. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:285)
- Joint dislocation (HP:0001373): Displacement or malalignment of joints. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:285)
- 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: Very frequent (HP:0040281). (ORPHA:285)
- Abnormal foot morphology (HP:0001760): An abnormality of the skeleton of foot. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:285)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:285)
- Sleep disturbance (HP:0002360): An abnormal pattern in the quality, quantity, or characteristics of sleep. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:285)
- Wormian bones (HP:0002645): The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:285)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:285)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:285)
- Elbow dislocation (HP:0003042): Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:285)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:285)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:285)
- Dental crowding (HP:0000678): Changes in alignment of teeth in the dental arch. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:285)
- Depression (HP:0000716): Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:285)
- Anxiety (HP:0000739): Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:285)
- Decreased nerve conduction velocity (HP:0000762): A reduction in the speed at which electrical signals propagate along the axon of a neuron. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:285)
- Thin skin (HP:0000963): Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:285)
- Soft skin (HP:0000977): Subjective impression of increased softness upon palpation of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:285)
- 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:285)
- 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:285)
- Arachnodactyly (HP:0001166): Abnormally long and slender fingers (spider fingers). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:285)
- 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: Frequent (HP:0040282). (ORPHA:285)
- Pes planus (HP:0001763): A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:285)
- Nausea and vomiting (HP:0002017): Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:285)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:285)
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:285)
- Rectal prolapse (HP:0002035): Protrusion of the rectal mucous membrane through the anus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:285)
- Migraine (HP:0002076): Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:285)
- Osteoarthritis (HP:0002758): Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:285)
- Arrhythmia (HP:0011675): Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:285)
- Chronic pain (HP:0012532): Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:285)
- Pelvic organ prolapse (HP:0031607): Pelvic organ prolapse (POP) refers to the protrusion of one or more female pelvic organs outside the pelvis through the vagina including uterus, bladder and intestines, and causes the pelvic organs to drop downward to the vaginal wall. That is, POP is defined as the anatomical prolapse with descent of at least one of the vaginal walls to or beyond the vaginal hymen with maximal Valsalva effort with the presence either of bothersome characteristic symptoms, most commonly the sensation of vaginal bulge, or of functional or medical compromise due to prolapse without symptom bother. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:285)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Decreased fertility (HP:0000144). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Gingival overgrowth (HP:0000212): Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Gingivitis (HP:0000230): Inflammation of the gingiva. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Keratoconus (HP:0000563): A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Microdontia (HP:0000691): Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Atypical scarring of skin (HP:0000987): Atypically scarred skin . Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Keratoconjunctivitis sicca (HP:0001097): Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Limitation of joint mobility (HP:0001376): A reduction in the freedom of movement of one or more joints. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- 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:285)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Apnea (HP:0002104): Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Gastrointestinal dysmotility (HP:0002579): Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Aortic root aneurysm (HP:0002616): An abnormal localized widening (dilatation) of the aortic root. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- High, narrow palate (HP:0002705): The presence of a high and narrow palate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Osteolysis (HP:0002797): Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Abnormality of the wrist (HP:0003019): Abnormality of the wrist, the structure connecting the hand and the forearm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Ascending tubular aorta aneurysm (HP:0004970): An abnormal localized widening (dilatation) of the tubular part of the ascending aorta. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Venous insufficiency (HP:0005293). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Arterial dissection (HP:0005294): A separation (dissection) of the layers of an artery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318): Absence or underdevelopment of the abdominal musculature. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- High myopia (HP:0011003): A severe form of myopia with greater than -6.00 diopters. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Abnormal autonomic nervous system physiology (HP:0012332): A functional abnormality of the autonomic nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Anorectal anomaly (HP:0012732): An abnormality of the anus or rectum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Raynaud phenomenon (HP:0030880). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Keratosis pilaris (HP:0032152): An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Tendon rupture (HP:0100550): Breakage (tear) of a tendon. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Cystocele (HP:0100645): Anterior vaginal wall prolapse with bulging of the bladder into the vagina. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Genital hernia (HP:0100823). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- Menometrorrhagia (HP:0400008): Prolonged/excessive menses and bleeding at irregular intervals. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:285)
- 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: Very frequent (HP:0040281). (ORPHA:285)