Phenotypes associated with the disease arterial tortuosity syndrome (OMIM:208050):
- Aortic valve stenosis (HP:0001650): The presence of a stenosis (narrowing) of the aortic valve. Evidence: PCS. Frequency: 7/15. (PMID:17935213)
- Astigmatism (HP:0000483): A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea. Evidence: PCS. Frequency: 5/15. (PMID:17935213)
- Keratoconus (HP:0000563): A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex. Evidence: PCS. Frequency: 3/14. (PMID:17935213)
- Flexion contracture (HP:0001371): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: IEA. (OMIM:208050)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: IEA. Frequency: Occasional (HP:0040283). (OMIM:208050)
- Ischemic stroke (HP:0002140): Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured. Evidence: IEA. (OMIM:208050)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 5/16. (PMID:17935213)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. (OMIM:208050)
- Short palpebral fissure (HP:0012745): Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures. Evidence: PCS. Frequency: 9/14. (PMID:17935213)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/16. (PMID:17935213)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 3/16. (PMID:17935213)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 6/16. (PMID:17935213)
- Aortic root aneurysm (HP:0002616): An abnormal localized widening (dilatation) of the aortic root. Evidence: PCS. Frequency: 2/16. (PMID:17935213)
- Generalized arterial tortuosity (HP:0004955): Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries. Evidence: PCS. Frequency: 15/15. (PMID:17935213)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: IEA. Frequency: Occasional (HP:0040283). (OMIM:208050)
- Progeroid facial appearance (HP:0005328): A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance. Evidence: PCS. Frequency: 7/14. (PMID:17935213)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 3/16. (PMID:17935213)
- Hiatus hernia (HP:0002036): The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus. Evidence: IEA. (OMIM:208050)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. Frequency: 8/15. (PMID:17935213)
- 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: 12/14. (PMID:17935213)
- Abnormal thrombosis (HP:0001977): Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). Evidence: IEA. (OMIM:208050)
- 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: 3/15. (PMID:17935213)
- 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: IEA. (OMIM:208050)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:208050)
- Aortic regurgitation (HP:0001659): An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle. Evidence: IEA. (OMIM:208050)
- Pectus carinatum (HP:0000768): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: PCS. Frequency: 2/15. (PMID:17935213)
- Convex nasal ridge (HP:0000444): Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. Evidence: PCS. Frequency: 8/14. (PMID:17935213)
- Macrotia (HP:0000400): Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). Evidence: PCS. Frequency: 7/15. (PMID:17935213)
- Thin skin (HP:0000963): Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. Evidence: PCS. Frequency: 4/13. (PMID:17935213)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 12/26. (PMID:17935213;OMIM:208050)
- Long philtrum (HP:0000343): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: IEA. (OMIM:208050)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: IEA. Frequency: 8/15. (OMIM:208050)
- Blepharophimosis (HP:0000581): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: IEA. (OMIM:208050)
- Telangiectases of the cheeks (HP:0007421): Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks. Evidence: IEA. (OMIM:208050)
- 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: IEA. (OMIM:208050)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: PCS. Frequency: 5/13. (PMID:17935213)
- Soft skin (HP:0000977): Subjective impression of increased softness upon palpation of the skin. Evidence: PCS. Frequency: 7/15. (PMID:17935213)
- Soft, doughy skin (HP:0001027): A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough. Evidence: IEA. (OMIM:208050)
- Congenital diaphragmatic hernia (HP:0000776): The presence of a hernia of the diaphragm present at birth. Evidence: PCS. Frequency: 7/15. (PMID:17935213)
- Pulmonary artery stenosis (HP:0004415): An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. Evidence: PCS. Frequency: 5/16. (PMID:17935213)
- 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: 7/14. (PMID:17935213)
- Cutis laxa (HP:0000973): Wrinkled, redundant, inelastic and sagging skin. Evidence: PCS. Frequency: 5/14. (PMID:17935213)
- Arachnodactyly (HP:0001166): Abnormally long and slender fingers (spider fingers). Evidence: IEA. Frequency: 6/15. (OMIM:208050)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/16. (PMID:17935213)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 3/15. (PMID:17935213)
- Long face (HP:0000276): Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). Evidence: PCS. Frequency: 14/14. (PMID:17935213)
- Bifid uvula (HP:0000193): Uvula separated into two parts most easily seen at the tip. Evidence: PCS. Frequency: 0/14. (PMID:17935213)
- Malar flattening (HP:0000272): Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. Evidence: PCS. Frequency: 9/14. (PMID:17935213)
- Carotid artery dissection (HP:0012158): A separation (dissection) of the layers of the carotid artery wall. Evidence: PCS. Frequency: 1/16. (PMID:17935213)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: IEA. (OMIM:208050)
- Ventricular hypertrophy (HP:0001714): Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy. Evidence: IEA. (OMIM:208050)
- Aortic tortuosity (HP:0006687): Abnormal tortuous (i.e., twisted) form of the aorta. Evidence: PCS. Frequency: 14/15. (PMID:17935213)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 5/14. (PMID:17935213)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: PCS. Frequency: 6/15. (PMID:17935213)