Phenotypes associated with the disease Loeys-Dietz syndrome 6 (OMIM:619656):
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 1/6. (PMID:29967133)
- 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: 1/5. (PMID:29967133)
- 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: PCS. Frequency: 1/1. (PMID:30157302)
- Broad uvula (HP:0010809): Increased width of the uvula (subjective finding). Evidence: PCS. Frequency: 1/10. (PMID:29967133)
- Osteochondritis dissecans (HP:0010886): A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage. Evidence: PCS. Frequency: 0/2. (PMID:26247899)
- Chronic fatigue (HP:0012432): Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer. Evidence: PCS. Frequency: 2/4. (PMID:26247899)
- Allergy (HP:0012393): An allergy is an immune response or reaction to substances that are usually not harmful. Evidence: PCS. Frequency: 0/4. (PMID:26247899)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/6. (PMID:29967133)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 2/6. (PMID:29967133)
- Varicose veins (HP:0002619): Enlarged and tortuous veins. Evidence: PCS. Frequency: 4/12. (PMID:26247899;PMID:29967133)
- Bicuspid aortic valve (HP:0001647): 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: 1/1. (PMID:30157302)
- 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: 4/14. (PMID:26247899;PMID:29967133)
- 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: PCS. Frequency: 3/10. (PMID:26247899;PMID:29967133)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. Frequency: 2/10. (PMID:29967133)
- Tall stature (HP:0000098): A height above that which is expected according to age and gender norms. Evidence: PCS. Frequency: 5/10. (PMID:30157302;PMID:29967133)
- Carotid artery tortuosity (HP:0005302): Abnormal tortuous (i.e., twisted) form of the carotid arteries. Evidence: PCS. Frequency: 0/2. (PMID:26247899)
- 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: 1/5. (PMID:30157302;PMID:26247899)
- Migraine (HP:0002076): Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. Evidence: PCS. Frequency: 5/10. (PMID:26247899;PMID:29967133)
- 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: PCS. Frequency: 3/9. (PMID:26247899;PMID:29967133)
- Midface retrusion (HP:0011800): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: PCS. Frequency: 1/1. (PMID:30157302)
- Camptodactyly (HP:0012385): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. Evidence: PCS. Frequency: 0/4. (PMID:26247899)
- Arthralgia (HP:0002829): Joint pain. Evidence: PCS. Frequency: 7/11. (PMID:26247899;PMID:29967133)
- Vertebral artery tortuosity (HP:0033981): Abnormal tortuous (i.e., twisted) form of the vertebral arteries. Evidence: PCS. Frequency: 0/2. (PMID:26247899)
- 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: PCS. Frequency: 2/4. (PMID:26247899)
- Abnormal sternum morphology (HP:0000766): An anomaly of the sternum, also known as the breastbone. Evidence: PCS. Frequency: 3/13. (PMID:26247899;PMID:28283438;PMID:29967133)
- Spontaneous pneumothorax (HP:0002108): Pneumothorax occurring without traumatic injury to the chest or lung. Evidence: PCS. Frequency: 0/9. (PMID:29967133)
- Hip osteoarthritis (HP:0008843). Evidence: PCS. Frequency: 1/2. (PMID:26247899)
- 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:26247899)
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: PCS. Frequency: 0/4. (PMID:26247899)
- Arterial tortuosity (HP:0005116): Abnormal tortuous (i.e., twisted) form of arteries. Evidence: PCS. Frequency: 1/1. (PMID:30157302)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/6. (PMID:29967133)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: 5/11. (PMID:26247899;PMID:29967133)
- Thoracic aortic aneurysm (HP:0012727): An abnormal localized widening (dilatation) of the thoracic aorta. Evidence: PCS. Frequency: 10/15. (PMID:26247899;PMID:28283438;PMID:29967133)
- Abdominal aortic aneurysm (HP:0005112): An abnormal localized widening (dilatation) of the abdominal aorta. Evidence: PCS. Frequency: 1/11. (PMID:28283438;PMID:29967133)
- 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: 5/9. (PMID:26247899;PMID:29967133)
- 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: 6/16. (PMID:30157302;PMID:28283438;PMID:26247899;PMID:29967133)
- 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: PCS. Frequency: 2/2. (PMID:26247899)
- Soft skin (HP:0000977): Subjective impression of increased softness upon palpation of the skin. Evidence: PCS. Frequency: 0/4. (PMID:26247899)
- Congenital diaphragmatic hernia (HP:0000776): The presence of a hernia of the diaphragm present at birth. Evidence: PCS. Frequency: 2/8. (PMID:29967133)
- Arachnodactyly (HP:0001166): Abnormally long and slender fingers (spider fingers). Evidence: PCS. Frequency: 6/14. (PMID:26247899;PMID:29967133)
- Intervertebral disk degeneration (HP:0008419): The presence of degenerative changes of intervertebral disk. Evidence: PCS. Frequency: 3/4. (PMID:26247899;PMID:28283438)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 5/12. (PMID:26247899;PMID:29967133)
- 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: 1/1. (PMID:28283438)
- Bifid uvula (HP:0000193): Uvula separated into two parts most easily seen at the tip. Evidence: PCS. Frequency: 1/14. (PMID:26247899;PMID:29967133)
- Late onset (HP:0003584): A type of adult onset with onset of symptoms after the age of 60 years. Evidence: PCS. Frequency: 1/6. (PMID:29967133)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. Frequency: 1/1. (PMID:28283438)
- Knee osteoarthritis (HP:0005086). Evidence: PCS. Frequency: 1/2. (PMID:26247899)
- Carotid artery dissection (HP:0012158): A separation (dissection) of the layers of the carotid artery wall. Evidence: PCS. Frequency: 2/11. (PMID:26247899;PMID:29967133)
- Disproportionate tall stature (HP:0001519): A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim. Evidence: PCS. Frequency: 1/4. (PMID:26247899)
- Carotid artery dilatation (HP:0012163): A dilatation (balooning or bulging out of the vessel wall) of a carotid artery. Evidence: PCS. Frequency: 1/3. (PMID:26247899)
- Vertebral artery aneurysm (HP:0034179): Abnormal outpouching or sac-like dilatation in the wall of the vertebral artery . Evidence: PCS. Frequency: 1/3. (PMID:26247899)
- 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: PCS. Frequency: 1/3. (PMID:26247899)
- Aortic tortuosity (HP:0006687): Abnormal tortuous (i.e., twisted) form of the aorta. Evidence: PCS. Frequency: 0/4. (PMID:26247899)
- Dolichocephaly (HP:0000268): 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: 3/11. (PMID:28283438;PMID:29967133)
- Transient ischemic attack (HP:0002326). Evidence: PCS. Frequency: 0/6. (PMID:29967133)
- Dilatation of the cerebral artery (HP:0004944): The presence of a localized dilatation or ballooning of a cerebral artery. Evidence: PCS. Frequency: 3/11. (PMID:30157302;PMID:26247899;PMID:29967133)