Phenotypes associated with the disease Weill-Marchesani syndrome 2, dominant (OMIM:608328, an entry in Online Mendelian Inheritance in Man):
- Aortic valve stenosis (HP:0001650, a Human Phenotype Ontology term): The presence of a stenosis (narrowing) of the aortic valve. Evidence: IEA. (OMIM:608328)
- Astigmatism (HP:0000483, a Human Phenotype Ontology term): A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea. Evidence: PCS. Frequency: 1/1. (PMID:23897642)
- Mild intellectual disability (HP:0001256, a Human Phenotype Ontology term): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: IEA. (OMIM:608328)
- Short stature (HP:0004322, a Human Phenotype Ontology term): 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: 11/11. (PMID:12525539;PMID:23897642)
- Short metacarpal (HP:0010049, a Human Phenotype Ontology term): Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. Evidence: PCS. Frequency: 1/1. (PMID:23897642)
- Iridodonesis (HP:0100693, a Human Phenotype Ontology term): Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens. Evidence: PCS. Frequency: 1/1. (PMID:23897642)
- Short finger (HP:0009381, a Human Phenotype Ontology term): Abnormally short finger associated with developmental hypoplasia. Evidence: PCS. Frequency: 1/1. (PMID:23897642)
- Depressed glabella (HP:0011222, a Human Phenotype Ontology term): Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges. Evidence: PCS. Frequency: 1/1. (PMID:23897642)
- Cataract (HP:0000518, a Human Phenotype Ontology term): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: IEA. (OMIM:608328)
- Lumbar hyperlordosis (HP:0002938, a Human Phenotype Ontology term): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: IEA. (OMIM:608328)
- Proportionate short stature (HP:0003508, a Human Phenotype Ontology term): A kind of short stature in which different regions of the body are shortened to a comparable extent. Evidence: IEA. (OMIM:608328)
- Patent ductus arteriosus (HP:0001643, a Human Phenotype Ontology term): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: IEA. (OMIM:608328)
- Pulmonic stenosis (HP:0001642, a Human Phenotype Ontology term): A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis). Evidence: IEA. (OMIM:608328)
- Broad palm (HP:0001169, a Human Phenotype Ontology term): For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length. Evidence: IEA. (OMIM:608328)
- Tooth malposition (HP:0000692, a Human Phenotype Ontology term): Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth. Evidence: IEA. (OMIM:608328)
- Joint stiffness (HP:0001387, a Human Phenotype Ontology term): Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. Evidence: PCS. (PMID:12525539)
- Delayed skeletal maturation (HP:0002750, a Human Phenotype Ontology term): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: PCS. Frequency: 1/1. (PMID:23897642)
- Broad metatarsal (HP:0001783, a Human Phenotype Ontology term): Increased side-to-side width of a metatarsal bone. Evidence: IEA. (OMIM:608328)
- 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: 1/1. (PMID:23897642)
- Lens luxation (HP:0012019, a Human Phenotype Ontology term): Complete dislocation of the lens of the eye. Evidence: PCS. Frequency: 1/1. (PMID:23897642)
- High myopia (HP:0011003, a Human Phenotype Ontology term): A severe form of myopia with greater than -6.00 diopters. Evidence: PCS. Frequency: 11/11. (PMID:12525539;PMID:23897642)
- Umbilical hernia (HP:0001537, a Human Phenotype Ontology term): 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: 1/1. (PMID:23897642)
- Hypoplasia of the maxilla (HP:0000327, a Human Phenotype Ontology term): Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. Evidence: IEA. (OMIM:608328)
- Protuberant abdomen (HP:0001538, a Human Phenotype Ontology term): A thrusting or bulging out of the abdomen. Evidence: PCS. Frequency: 1/1. (PMID:23897642)
- Mitral regurgitation (HP:0001653, a Human Phenotype Ontology term): An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction. Evidence: IEA. (OMIM:608328)
- Elbow flexion contracture (HP:0002987, a Human Phenotype Ontology term): An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position. Evidence: PCS. Frequency: 1/1. (PMID:23897642)
- Brachycephaly (HP:0000248, a Human Phenotype Ontology term): An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. Evidence: IEA. (OMIM:608328)
- 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. (PMID:12525539)
- Broad ribs (HP:0000885, a Human Phenotype Ontology term): Increased width of ribs. Evidence: IEA. (OMIM:608328)
- Narrow palate (HP:0000189, a Human Phenotype Ontology term): Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective). Evidence: IEA. (OMIM:608328)
- Flexion contracture of toe (HP:0005830, a Human Phenotype Ontology term): One or more bent (flexed) toe joints that cannot be straightened actively or passively. Evidence: PCS. Frequency: 1/1. (PMID:23897642)
- Brachydactyly (HP:0001156, a Human Phenotype Ontology term): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: PCS. (PMID:12525539)
- Broad skull (HP:0002682, a Human Phenotype Ontology term): Increased width of the skull. Evidence: IEA. (OMIM:608328)
- Broad metacarpals (HP:0001230, a Human Phenotype Ontology term): Abnormally broad metacarpal bones. Evidence: IEA. (OMIM:608328)
- Thickened skin (HP:0001072, a Human Phenotype Ontology term): Laminar thickening of skin. Evidence: IEA. (OMIM:608328)
- Short metatarsal (HP:0010743, a Human Phenotype Ontology term): Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe. Evidence: PCS. Frequency: 1/1. (PMID:23897642)
- Ventricular septal defect (HP:0001629, a Human Phenotype Ontology term): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: IEA. (OMIM:608328)
- Blindness (HP:0000618, a Human Phenotype Ontology term): Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. Evidence: IEA. (OMIM:608328)
- 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: 1/1. (PMID:23897642)
- Broad phalanges of the hand (HP:0009768, a Human Phenotype Ontology term): Increased width of the phalanges of the hand. Evidence: IEA. (OMIM:608328)
- Ascending aortic dissection (HP:0004933, a Human Phenotype Ontology term): A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. Evidence: PCS. Frequency: 1/1. (PMID:23897642)
- Thin bony cortex (HP:0002753, a Human Phenotype Ontology term): Abnormal thinning of the cortical region of bones. Evidence: IEA. (OMIM:608328)
- Shallow anterior chamber (HP:0000594, a Human Phenotype Ontology term): Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased. Evidence: IEA. (OMIM:608328)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: IEA. (OMIM:608328)
- Microspherophakia (HP:0030961, a Human Phenotype Ontology term): Microspherophakia is a rare congenital anomaly characterized by the abnormal spherical shape of the crystalline lens. It is characterized by an increased anteroposterior thickness of the lens associated with reduced equatorial diameter. The primary pathology lies in the development of zonules. The condition is often bilateral and is characterized by small, thick, and spherical lenses. Evidence: PCS. (PMID:12525539)
- Thickened helices (HP:0000391, a Human Phenotype Ontology term): Increased thickness of the helix of the ear. Evidence: PCS. Frequency: 1/1. (PMID:23897642)
- 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: IEA. (OMIM:608328)
- Depressed nasal bridge (HP:0005280, a Human Phenotype Ontology term): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: IEA. (OMIM:608328)
- Abnormal dental morphology (HP:0006482, a Human Phenotype Ontology term): An abnormality of the morphology of the tooth. Evidence: IEA. (OMIM:608328)
- Lack of skin elasticity (HP:0100679, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/1. (PMID:23897642)
- Congestive heart failure (HP:0001635, a Human Phenotype Ontology term): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: PCS. Frequency: 1/1. (PMID:23897642)
- Spinal canal stenosis (HP:0003416, a Human Phenotype Ontology term): An abnormal narrowing of the spinal canal. Evidence: IEA. (OMIM:608328)
- Shallow orbits (HP:0000586, a Human Phenotype Ontology term): Reduced depth of the orbits associated with prominent-appearing ocular globes. Evidence: IEA. (OMIM:608328)
- Glaucoma (HP:0000501, a Human Phenotype Ontology term): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: PCS. (PMID:12525539)