Phenotypes associated with the disease Marfan syndrome (OMIM:154700, an entry in Online Mendelian Inheritance in Man):
- Thoracic lordosis (HP:0430043, a Human Phenotype Ontology term): Thoracic lordosis refers to an abnormal curvature of the thoracic spine in which the thoracic spine displays lordosis (inward curve) instead of the normal kyphosis (outward curve). Evidence: PCS. Frequency: 16/21. (PMID:31772430)
- 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: 3/53. (PMID:33436942)
- Limited elbow extension (HP:0001377, a Human Phenotype Ontology term): Limited ability to straighten the arm at the elbow joint. Evidence: PCS. Frequency: 29/199. (PMID:28050285;PMID:33436942)
- Strabismus (HP:0000486, a Human Phenotype Ontology term): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: PCS. Frequency: 110/573. (PMID:8172269)
- Mitral annular calcification (HP:0005136, a Human Phenotype Ontology term): Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus. Evidence: IEA. (OMIM:154700)
- Flexion contracture (HP:0001371, a Human Phenotype Ontology term): 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:154700)
- Decreased muscle mass (HP:0003199, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:154700)
- Hypertropia (HP:0025586, a Human Phenotype Ontology term): A type of strabismus characterized by permanent upward deviation of the visual axis of one eye. Evidence: PCS. Frequency: 8/573. (PMID:8172269)
- 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: PCS. Frequency: 118/199. (PMID:33436942;PMID:26903188)
- Medial rotation of the medial malleolus (HP:0008132, a Human Phenotype Ontology term): Hindfoot valgus (posterior part of the foot turns outward) in combination with forefoot abduction (front part of the foot (the forefoot) is angled outwards away from the midline of the body, relative to the hindfoot) and lowering of the midfoot. Evidence: IEA. (OMIM:154700)
- Genu recurvatum (HP:0002816, a Human Phenotype Ontology term): An abnormally increased extension of the knee joint, so that the knee can bend backwards. Evidence: IEA. (OMIM:154700)
- Aortic root aneurysm (HP:0002616, a Human Phenotype Ontology term): An abnormal localized widening (dilatation) of the aortic root. Evidence: PCS. Frequency: 45/58. (PMID:33436942)
- 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: 1/58. (PMID:33436942)
- Dental crowding (HP:0000678, a Human Phenotype Ontology term): Changes in alignment of teeth in the dental arch. Evidence: PCS. Frequency: 8/53. (PMID:33436942)
- Equinus calcaneus (HP:0008138, a Human Phenotype Ontology term): Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees. Evidence: PCS. Frequency: 31/146. (PMID:28050285)
- Metatarsus adductus (HP:0001840, a Human Phenotype Ontology term): The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body. Evidence: PCS. Frequency: 7/53. (PMID:33436942)
- 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: 27/53. (PMID:33436942)
- Retrognathia (HP:0000278, a Human Phenotype Ontology term): An abnormality in which the mandible is mislocalised posteriorly. Evidence: IEA. (OMIM:154700)
- Increased axial length of the globe (HP:0007800, a Human Phenotype Ontology term): Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean. Evidence: IEA. (OMIM:154700)
- Hammertoe (HP:0001765, a Human Phenotype Ontology term): Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint. Evidence: IEA. (OMIM:154700)
- Kyphoscoliosis (HP:0002751, a Human Phenotype Ontology term): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: PCS. Frequency: 37/146. (PMID:28050285)
- 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: 19/53. (PMID:33436942)
- Tall stature (HP:0000098, a Human Phenotype Ontology term): A height above that which is expected according to age and gender norms. Evidence: TAS. (OMIM:154700)
- 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: IEA. (OMIM:154700)
- 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: 11/53. (PMID:33436942)
- Premature osteoarthritis (HP:0003088, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:154700)
- 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: 25/63. (PMID:33436942;OMIM:154700)
- 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: 11/53. (PMID:33436942)
- Tricuspid regurgitation (HP:0005180, a Human Phenotype Ontology term): Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium. Evidence: PCS. Frequency: 26/58. (PMID:33436942)
- Camptodactyly (HP:0012385, a Human Phenotype Ontology term): 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: 19/53. (PMID:33436942)
- 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: 112/140. (PMID:10489951;PMID:3189335)
- Pectus excavatum (HP:0000767, a Human Phenotype Ontology term): 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: 44/146. (PMID:28050285)
- Pulmonary artery dilatation (HP:0004927, a Human Phenotype Ontology term): An abnormal widening of the diameter of the pulmonary artery. Evidence: IEA. (OMIM:154700)
- Reduced subcutaneous adipose tissue (HP:0003758, a Human Phenotype Ontology term): A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness. Evidence: IEA. (OMIM:154700)
- Aortic regurgitation (HP:0001659, a Human Phenotype Ontology term): An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle. Evidence: PCS. Frequency: 14/58. (PMID:33436942)
- Hypoplasia of the iris (HP:0007676, a Human Phenotype Ontology term): Congenital underdevelopment of the iris. Evidence: IEA. (OMIM:154700)
- Pectus carinatum (HP:0000768, a Human Phenotype Ontology term): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: PCS. Frequency: 58/146. (PMID:28050285)
- Esotropia (HP:0000565, a Human Phenotype Ontology term): A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more. Evidence: PCS. Frequency: 12/573. (PMID:8172269)
- 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: PCS. Frequency: 33/58. (PMID:33436942)
- 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: 6/53. (PMID:33436942)
- 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:17502658)
- Spontaneous cerebrospinal fluid leak (HP:0032934, a Human Phenotype Ontology term): A spontaneous cerebrospinal fluid leak (SCSFL) is a spontaneous and unexplained leak of the cerebrospinal fluid from the dura surrounding either the brain (cranial leak) or spine (spinal leak). Evidence: PCS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). Onset: Young adult onset (HP:0011462, a Human Phenotype Ontology term). (PMID:8530937)
- 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: TAS. (OMIM:154700)
- Retinal detachment (HP:0000541, a Human Phenotype Ontology term): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: IEA. (OMIM:154700)
- Protrusio acetabuli (HP:0003179, a Human Phenotype Ontology term): Intrapelvic bulging of the medial acetabular wall. Evidence: PCS. Frequency: 140/292. (PMID:28050285;PMID:26339165)
- Reduced upper to lower segment ratio (HP:0012773, a Human Phenotype Ontology term): Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present. Evidence: PCS. Frequency: 54/146. (PMID:28050285)
- Tricuspid valve prolapse (HP:0001704, a Human Phenotype Ontology term): One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle. Evidence: PCS. Frequency: 31/58. (PMID:33436942)
- 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: 34/53. (PMID:33436942)
- Narrow foot (HP:0001786, a Human Phenotype Ontology term): A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length. Evidence: PCS. Frequency: 33/53. (PMID:33436942)
- Exotropia (HP:0000577, a Human Phenotype Ontology term): A form of strabismus with one or both eyes deviated outward. Evidence: PCS. Frequency: 72/626. (PMID:8172269;PMID:33436942)
- Arachnodactyly (HP:0001166, a Human Phenotype Ontology term): Abnormally long and slender fingers (spider fingers). Evidence: PCS. Frequency: 124/197. (PMID:28050285;PMID:33436942)
- Narrow face (HP:0000275, a Human Phenotype Ontology term): Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). Evidence: TAS. (OMIM:154700)
- Spondylolisthesis (HP:0003302, a Human Phenotype Ontology term): Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra. Evidence: IEA. (OMIM:154700)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 16/53. (PMID:33436942)
- Talipes (HP:0001883, a Human Phenotype Ontology term): A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. Evidence: PCS. Frequency: 13/53. (PMID:33436942)
- Incisional hernia (HP:0004872, a Human Phenotype Ontology term): An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound. Evidence: IEA. (OMIM:154700)
- Long face (HP:0000276, a Human Phenotype Ontology term): 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: TAS. (OMIM:154700)
- 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. Frequency: 2/53. (PMID:33436942)
- Pes cavus (HP:0001761, a Human Phenotype Ontology term): An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight). Evidence: PCS. Frequency: 49/146. (PMID:28050285)
- Inferior oblique muscle overaction (HP:0025599, a Human Phenotype Ontology term): A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye. Evidence: PCS. Frequency: 3/573. (PMID:8172269)
- Emphysema (HP:0002097, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:154700)
- 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: 31/53. (PMID:33436942)
- 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: 119/251. (PMID:28050285;PMID:29587526;PMID:33436942)
- Disproportionate tall stature (HP:0001519, a Human Phenotype Ontology term): 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: 38/53. (PMID:33436942)
- 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: IEA. (OMIM:154700)
- 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: 1/58. (PMID:33436942)
- 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: 36/53. (PMID:33436942)
- 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. Frequency: 29/625. (PMID:1494814;PMID:29587526)
- Micrognathia (HP:0000347, a Human Phenotype Ontology term): Developmental hypoplasia of the mandible. Evidence: IEA. (OMIM:154700)
- 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: 67/111. (PMID:2791251;PMID:33436942)
- Myopia (HP:0000545, a Human Phenotype Ontology term): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: PCS. Frequency: 93/251. (PMID:28050285;PMID:29587526;PMID:33436942)