Phenotypes associated with the disease Loeys-Dietz syndrome 4 (OMIM:614816, an entry in Online Mendelian Inheritance in Man):
- Arterial tortuosity (HP:0005116, a Human Phenotype Ontology term): Abnormal tortuous (i.e., twisted) form of arteries. Evidence: PCS. Frequency: 11/18. (PMID:25163805;PMID:22772371)
- Inguinal hernia (HP:0000023, a Human Phenotype Ontology term): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: 26/42. (PMID:22772368;PMID:25163805;PMID:22772371)
- Protrusio acetabuli (HP:0003179, a Human Phenotype Ontology term): Intrapelvic bulging of the medial acetabular wall. Evidence: PCS. Frequency: 1/8. (PMID:22772371)
- Broad uvula (HP:0010809, a Human Phenotype Ontology term): Increased width of the uvula (subjective finding). Evidence: PCS. Frequency: 2/15. (PMID:22772368)
- Tarlov cyst (HP:0025643, a Human Phenotype Ontology term): A cerebrospinal fluid-filled nerve root cyst most often localized in the sacral spine. Evidence: PCS. Frequency: 3/5. (PMID:22772368)
- Eosinophilic infiltration of the esophagus (HP:0410151, a Human Phenotype Ontology term): Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus. Evidence: PCS. (PMID:23608731)
- Varicose veins (HP:0002619, a Human Phenotype Ontology term): Enlarged and tortuous veins. Evidence: PCS. Frequency: 1/13. (PMID:22772368)
- Aortic root aneurysm (HP:0002616, a Human Phenotype Ontology term): An abnormal localized widening (dilatation) of the aortic root. Evidence: PCS. Frequency: 23/25. (PMID:22772368;PMID:22772371)
- Bicuspid aortic valve (HP:0001647, a Human Phenotype Ontology term): The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps). Evidence: PCS. Frequency: 3/31. (PMID:25046559;PMID:22772368;PMID:22772371)
- Hypertelorism (HP:0000316, a Human Phenotype Ontology term): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 5/28. (PMID:22772368;PMID:22772371)
- Bruising susceptibility (HP:0000978, a Human Phenotype Ontology term): 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: 12/26. (PMID:22772368;PMID:25163805)
- Recurrent thrombophlebitis (HP:0004419, a Human Phenotype Ontology term): Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein). Evidence: PCS. Frequency: 2/18. (PMID:22772371)
- Flat cornea (HP:0007720, a Human Phenotype Ontology term): Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age. Evidence: PCS. Frequency: 2/8. (PMID:22772371)
- High palate (HP:0000218, a Human Phenotype Ontology term): 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: 44/73. (PMID:25046559;PMID:22772368;PMID:25163805;PMID:22772371)
- Soft skin (HP:0000977, a Human Phenotype Ontology term): Subjective impression of increased softness upon palpation of the skin. Evidence: PCS. Frequency: 3/13. (PMID:22772368)
- Pes planus (HP:0001763, a Human Phenotype Ontology term): 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: PCS. Frequency: 42/73. (PMID:25046559;PMID:22772368;PMID:25163805;PMID:22772371)
- Retrognathia (HP:0000278, a Human Phenotype Ontology term): An abnormality in which the mandible is mislocalised posteriorly. Evidence: PCS. Frequency: 13/28. (PMID:22772368;PMID:22772371)
- Hyperextensible skin (HP:0000974, a Human Phenotype Ontology term): A condition in which the skin can be stretched beyond normal, and then returns to its initial position. Evidence: PCS. Frequency: 2/15. (PMID:25163805)
- Cutis laxa (HP:0000973, a Human Phenotype Ontology term): Wrinkled, redundant, inelastic and sagging skin. Evidence: PCS. Frequency: 0/13. (PMID:22772371)
- Arachnodactyly (HP:0001166, a Human Phenotype Ontology term): Abnormally long and slender fingers (spider fingers). Evidence: PCS. Frequency: 35/66. (PMID:22772368;PMID:25163805;PMID:22772371)
- Torticollis (HP:0000473, a Human Phenotype Ontology term): Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. Evidence: PCS. Frequency: 2/15. (PMID:22772368)
- Downslanted palpebral fissures (HP:0000494, a Human Phenotype Ontology term): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. Frequency: 10/28. (PMID:22772368;PMID:22772371)
- Spondylolisthesis (HP:0003302, a Human Phenotype Ontology term): Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra. Evidence: PCS. Frequency: 2/22. (PMID:22772368;PMID:22772371)
- Tall stature (HP:0000098, a Human Phenotype Ontology term): A height above that which is expected according to age and gender norms. Evidence: PCS. Frequency: 33/59. (PMID:22772368;PMID:25163805;PMID:22772371)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 25/74. (PMID:25046559;PMID:22772368;PMID:25163805;PMID:22772371)
- Talipes equinovarus (HP:0001762, a Human Phenotype Ontology term): 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. Frequency: 11/55. (PMID:22772368;PMID:25163805)
- Ascending tubular aorta aneurysm (HP:0004970, a Human Phenotype Ontology term): An abnormal localized widening (dilatation) of the tubular part of the ascending aorta. Evidence: PCS. Frequency: 3/3. (PMID:25046559)
- Joint hypermobility (HP:0001382, a Human Phenotype Ontology term): 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: 43/74. (PMID:25046559;PMID:22772368;PMID:25163805;PMID:22772371)
- Bifid uvula (HP:0000193, a Human Phenotype Ontology term): Uvula separated into two parts most easily seen at the tip. Evidence: PCS. Frequency: 3/3. (PMID:22772368)
- Deeply set eye (HP:0000490, a Human Phenotype Ontology term): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: PCS. Frequency: 0/13. (PMID:22772371)
- Striae distensae (HP:0001065, a Human Phenotype Ontology term): 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: PCS. Frequency: 24/70. (PMID:22772368;PMID:25163805;PMID:22772371)
- Emphysema (HP:0002097, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 2/13. (PMID:22772371)
- Malar flattening (HP:0000272, a Human Phenotype Ontology term): 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: 0/13. (PMID:22772371)
- Ectopia lentis (HP:0001083, a Human Phenotype Ontology term): Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation. Evidence: PCS. Frequency: 0/27. (PMID:22772368;PMID:22772371)
- Chronic pain (HP:0012532, a Human Phenotype Ontology term): Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months. Evidence: PCS. Frequency: 2/2. (PMID:25163805)
- Dural ectasia (HP:0100775, a Human Phenotype Ontology term): A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level. Evidence: PCS. Frequency: 9/24. (PMID:22772368;PMID:25163805;PMID:22772371)
- Ptosis (HP:0000508, a Human Phenotype Ontology term): 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: PCS. Frequency: 2/15. (PMID:22772368)
- Abnormal sternum morphology (HP:0000766, a Human Phenotype Ontology term): An anomaly of the sternum, also known as the breastbone. Evidence: PCS. Frequency: 16/31. (PMID:22772368;PMID:22772371)
- High, narrow palate (HP:0002705, a Human Phenotype Ontology term): The presence of a high and narrow palate. Evidence: PCS. Frequency: 10/15. (PMID:22772368)
- Aortic dissection (HP:0002647, a Human Phenotype Ontology term): Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta. Evidence: PCS. Frequency: 9/60. (PMID:22772368;PMID:25163805)
- Aortic tortuosity (HP:0006687, a Human Phenotype Ontology term): Abnormal tortuous (i.e., twisted) form of the aorta. Evidence: PCS. Frequency: 3/5. (PMID:22772371)
- Dolichocephaly (HP:0000268, a Human Phenotype Ontology term): An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. Evidence: PCS. Frequency: 1/3. (PMID:25046559)
- Dilatation of the cerebral artery (HP:0004944, a Human Phenotype Ontology term): The presence of a localized dilatation or ballooning of a cerebral artery. Evidence: PCS. Frequency: 0/7. (PMID:22772371)
- Pneumothorax (HP:0002107, a Human Phenotype Ontology term): Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung. Evidence: PCS. Frequency: 1/17. (PMID:22772371)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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. Frequency: 20/20. (PMID:22772368;PMID:22772371)
- Mitral valve prolapse (HP:0001634, a Human Phenotype Ontology term): 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. Frequency: 7/26. (PMID:22772368;PMID:22772371)