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Marfan syndrome(MFS)

MedGen UID:
44287
Concept ID:
C0024796
Disease or Syndrome
Synonyms: FBN1-Related Thoracic Aortic Aneurysms and Aortic Dissections; Marfan syndrome type 1; Marfan syndrome, classic; MARFAN SYNDROME, TYPE I; Marfan's syndrome; MFS
SNOMED CT: Marfan syndrome (19346006); Marfan's syndrome (19346006); Marfan's disease (19346006)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
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.
 
Gene (location): FBN1 (15q21.1)
 
Monarch Initiative: MONDO:0007947
OMIM®: 154700
Orphanet: ORPHA558

Disease characteristics

Excerpted from the GeneReview: FBN1-Related Marfan Syndrome
FBN1-related Marfan syndrome (Marfan syndrome), a systemic disorder of connective tissue with a high degree of clinical variability, comprises a broad phenotypic continuum ranging from mild (features of Marfan syndrome in one or a few systems) to severe and rapidly progressive neonatal multiorgan disease. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. Ocular findings include myopia (>50% of affected individuals); ectopia lentis (seen in approximately 60% of affected individuals); and an increased risk for retinal detachment, glaucoma, and early cataracts. Skeletal system manifestations include bone overgrowth and joint laxity; disproportionately long extremities for the size of the trunk (dolichostenomelia); overgrowth of the ribs that can push the sternum in (pectus excavatum) or out (pectus carinatum); and scoliosis that ranges from mild to severe and progressive. The major morbidity and early mortality in Marfan syndrome relate to the cardiovascular system and include dilatation of the aorta at the level of the sinuses of Valsalva (predisposing to aortic tear and rupture), mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the proximal pulmonary artery. Severe and prolonged regurgitation of the mitral and/or aortic valve can predispose to left ventricular dysfunction and occasionally heart failure. With proper management, the life expectancy of someone with Marfan syndrome approximates that of the general population. [from GeneReviews]
Authors:
Harry Dietz   view full author information

Additional descriptions

From OMIM
A heritable disorder of fibrous connective tissue, Marfan syndrome (MFS) shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (121050), which is caused by mutation in the FBN2 gene (612570). Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.  http://www.omim.org/entry/154700
From MedlinePlus Genetics
Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression.

Because connective tissue is found throughout the body, Marfan syndrome can affect many systems, often causing abnormalities in the heart, blood vessels, eyes, bones, and joints. The two primary features of Marfan syndrome are vision problems caused by a dislocated lens (ectopia lentis) in one or both eyes and defects in the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). The aorta can weaken and stretch, which may lead to a bulge in the blood vessel wall (an aneurysm). Stretching of the aorta may cause the aortic valve to leak, which can lead to a sudden tearing of the layers in the aorta wall (aortic dissection). Aortic aneurysm and dissection can be life threatening.

Many people with Marfan syndrome have additional heart problems including a leak in the valve that connects two of the four chambers of the heart (mitral valve prolapse) or the valve that regulates blood flow from the heart into the aorta (aortic valve regurgitation). Leaks in these valves can cause shortness of breath, fatigue, and an irregular heartbeat felt as skipped or extra beats (palpitations).

Individuals with Marfan syndrome are usually tall and slender, have elongated fingers and toes (arachnodactyly), loose joints, and have an arm span that exceeds their body height. Other common features include a long and narrow face, crowded teeth, an abnormal curvature of the spine (scoliosis or kyphosis), stretch marks (striae) not related to weight gain or loss, and either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum). Some individuals develop an abnormal accumulation of air in the chest cavity that can result in the collapse of a lung (spontaneous pneumothorax). A membrane called the dura, which surrounds the brain and spinal cord, can be abnormally enlarged (dural ectasia) in people with Marfan syndrome. Dural ectasia can cause pain in the back, abdomen, legs, or head. Most individuals with Marfan syndrome have some degree of nearsightedness (myopia). Clouding of the lens (cataract) may occur in mid-adulthood, and increased pressure within the eye (glaucoma) occurs more frequently in people with Marfan syndrome than in those without the condition.

The features of Marfan syndrome can become apparent anytime between infancy and adulthood. Depending on the onset and severity of signs and symptoms, Marfan syndrome can be fatal early in life; however, with proper treatment, many affected individuals have normal lifespans.  https://medlineplus.gov/genetics/condition/marfan-syndrome

Clinical features

From HPO
Arachnodactyly
MedGen UID:
2047
Concept ID:
C0003706
Congenital Abnormality
Abnormally long and slender fingers ("spider fingers").
Pes planus
MedGen UID:
42034
Concept ID:
C0016202
Anatomical Abnormality
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.
Protrusio acetabuli
MedGen UID:
98369
Concept ID:
C0409495
Anatomical Abnormality
Intrapelvic bulging of the medial acetabular wall.
Genu recurvatum
MedGen UID:
107486
Concept ID:
C0546964
Anatomical Abnormality
An abnormally increased extension of the knee joint, so that the knee can bend backwards.
Narrow foot
MedGen UID:
108395
Concept ID:
C0576227
Finding
A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length.
Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.
Hammertoe
MedGen UID:
209712
Concept ID:
C1136179
Anatomical Abnormality
Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.
Talipes
MedGen UID:
220976
Concept ID:
C1301937
Congenital Abnormality
A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.
Equinus calcaneus
MedGen UID:
395488
Concept ID:
C1860449
Finding
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.
Limited elbow extension
MedGen UID:
401158
Concept ID:
C1867103
Finding
Limited ability to straighten the arm at the elbow joint.
Medial rotation of the medial malleolus
MedGen UID:
812056
Concept ID:
C3805726
Finding
Metatarsus adductus
MedGen UID:
898667
Concept ID:
C4082169
Anatomical Abnormality
The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.
Aortic regurgitation
MedGen UID:
8153
Concept ID:
C0003504
Disease or Syndrome
An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
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.
Mitral regurgitation
MedGen UID:
7670
Concept ID:
C0026266
Disease or Syndrome
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.
Mitral valve prolapse
MedGen UID:
7671
Concept ID:
C0026267
Disease or Syndrome
One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
Tricuspid regurgitation
MedGen UID:
11911
Concept ID:
C0040961
Disease or Syndrome
Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.
Tricuspid valve prolapse
MedGen UID:
11912
Concept ID:
C0040962
Disease or Syndrome
One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle.
Bicuspid aortic valve
MedGen UID:
57436
Concept ID:
C0149630
Congenital Abnormality
Bicuspid, or bicommissural, aortic valve (BAV) describes an aortic valve with 2 rather than 3 leaflets (Cripe et al., 2004). In 1 to 2% of the population a bicuspid aortic valve is present. Bicuspid aortic valve is frequently an antecedent to aortic valve stenosis or insufficiency. In extreme cases the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome (241550) (Garg et al., 2005). The valve calcification often observed in bicuspid aortic valve is a result of inappropriate activation of osteoblast-specific gene expression. Mutations in the signaling and transcription regulator NOTCH1 cause a spectrum of developmental aortic valve anomalies and severe valve calcification in nonsyndromic autosomal dominant human pedigrees. Genetic Heterogeneity of Aortic Valve Disease Also see AOVD2 (614823), caused by mutation in the SMAD6 gene (602931) on chromosome 15q22, and AOVD3 (618496), caused by mutation in the ROBO4 gene (607528) on chromosome 11q24. There is evidence for additional genetic heterogeneity (see MAPPING).
Aortic dissection
MedGen UID:
83315
Concept ID:
C0340643
Disease or Syndrome
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.
Pulmonary artery dilatation
MedGen UID:
140900
Concept ID:
C0428851
Disease or Syndrome
An abnormal widening of the diameter of the pulmonary artery.
Ascending tubular aorta aneurysm
MedGen UID:
163631
Concept ID:
C0856747
Anatomical Abnormality
An abnormal localized widening (dilatation) of the tubular part of the ascending aorta.
Aortic root aneurysm
MedGen UID:
720712
Concept ID:
C1298820
Anatomical Abnormality
An abnormal localized widening (dilatation) of the aortic root.
Mitral annular calcification
MedGen UID:
331909
Concept ID:
C1835130
Finding
Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus.
Tall stature
MedGen UID:
69137
Concept ID:
C0241240
Finding
A height above that which is expected according to age and gender norms.
Disproportionate tall stature
MedGen UID:
323048
Concept ID:
C1836996
Finding
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.
Reduced upper to lower segment ratio
MedGen UID:
1632800
Concept ID:
C4551956
Finding
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.
Dural ectasia
MedGen UID:
377094
Concept ID:
C1851712
Finding
A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level.
Spontaneous cerebrospinal fluid leak
MedGen UID:
827161
Concept ID:
C3850067
Pathologic Function
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).
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Retrognathia
MedGen UID:
19766
Concept ID:
C0035353
Congenital Abnormality
An abnormality in which the mandible is mislocalised posteriorly.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Spondylolisthesis
MedGen UID:
52470
Concept ID:
C0038016
Disease or Syndrome
Spondylolisthesis is defined as forward slipping of a vertebral body on the one below it. Spondylolysis is defined as a defect in the pars interarticularis without vertebral slipping (summary by Wiltse et al., 1975).
Pectus carinatum
MedGen UID:
57643
Concept ID:
C0158731
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Dolichocephaly
MedGen UID:
65142
Concept ID:
C0221358
Congenital Abnormality
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.
Incisional hernia
MedGen UID:
488830
Concept ID:
C0267716
Finding
An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound.
Flexion contracture
MedGen UID:
83069
Concept ID:
C0333068
Anatomical Abnormality
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.
Kyphoscoliosis
MedGen UID:
154361
Concept ID:
C0575158
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Camptodactyly
MedGen UID:
195780
Concept ID:
C0685409
Congenital Abnormality
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.
Premature osteoarthritis
MedGen UID:
371977
Concept ID:
C1835121
Disease or Syndrome
Decreased muscle mass
MedGen UID:
373256
Concept ID:
C1837108
Finding
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The ability of a joint to move beyond its normal range of motion.
Reduced subcutaneous adipose tissue
MedGen UID:
387876
Concept ID:
C1857657
Finding
A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Pneumothorax
MedGen UID:
19365
Concept ID:
C0032326
Disease or Syndrome
Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung.
Emphysema
MedGen UID:
18764
Concept ID:
C0034067
Disease or Syndrome
A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing.
Dental crowding
MedGen UID:
11850
Concept ID:
C0040433
Finding
Changes in alignment of teeth in the dental arch
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
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).
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Narrow palate
MedGen UID:
278045
Concept ID:
C1398312
Finding
Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).
Long face
MedGen UID:
324419
Concept ID:
C1836047
Finding
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).
Narrow face
MedGen UID:
373334
Concept ID:
C1837463
Finding
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).
Striae distensae
MedGen UID:
57541
Concept ID:
C0152459
Acquired Abnormality
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.
Astigmatism
MedGen UID:
2473
Concept ID:
C0004106
Disease or Syndrome
Astigmatism (from the Greek 'a' meaning absence and 'stigma' meaning point) is a condition in which the parallel rays of light entering the eye through the refractive media are not focused on a single point. Both corneal and noncorneal factors contribute to refractive astigmatism. Corneal astigmatism is mainly the result of an aspheric anterior surface of the cornea, which can be measured readily by means of a keratometer; in a small fraction of cases (approximately 1 in 10) the effect is neutralized by the back surface. The curvature of the back surface of the cornea is not considered in most studies, because it is more difficult to measure; moreover, in the case of severe corneal astigmatism, there is evidence that both surfaces have the same configuration. Noncorneal factors are errors in the curvature of the 2 surfaces of the crystalline lens, irregularity in the refractive index of the lens, and an eccentric lens position. Since the cornea is the dominant component of the eye's refracting system, a highly astigmatic cornea is likely to result in a similarly astigmatic ocular refraction (summary by Clementi et al., 1998).
Ectopia lentis
MedGen UID:
41704
Concept ID:
C0013581
Congenital Abnormality
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.
Esotropia
MedGen UID:
4550
Concept ID:
C0014877
Disease or Syndrome
A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.
Exotropia
MedGen UID:
4613
Concept ID:
C0015310
Disease or Syndrome
A form of strabismus with one or both eyes deviated outward.
Glaucoma
MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Hypertropia
MedGen UID:
43790
Concept ID:
C0020575
Disease or Syndrome
A type of strabismus characterized by permanent upward deviation of the visual axis of one eye.
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.
Retinal detachment
MedGen UID:
19759
Concept ID:
C0035305
Disease or Syndrome
Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
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.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Hypoplasia of the iris
MedGen UID:
91029
Concept ID:
C0344539
Congenital Abnormality
Congenital underdevelopment of the iris.
Deeply set eye
MedGen UID:
473112
Concept ID:
C0423224
Finding
An eye that is more deeply recessed into the plane of the face than is typical.
Inferior oblique muscle overaction
MedGen UID:
699220
Concept ID:
C1276001
Disease or Syndrome
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.
Microspherophakia
MedGen UID:
288328
Concept ID:
C1562061
Congenital Abnormality
Microspherophakia (MSP) is a rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. Lens dislocation or subluxation may occur, leading to defective accommodation (summary by Ben Yahia et al., 2009). Microspherophakia may occur in association with ectopia lentis and glaucoma, Marfan syndrome (MFS; 154700), and Weill-Marchesani syndrome (WMS; 277600).
Increased axial length of the globe
MedGen UID:
320525
Concept ID:
C1835117
Finding
Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean.

Professional guidelines

PubMed

Isselbacher EM, Preventza O, Hamilton Black J 3rd, Augoustides JG, Beck AW, Bolen MA, Braverman AC, Bray BE, Brown-Zimmerman MM, Chen EP, Collins TJ, DeAnda A Jr, Fanola CL, Girardi LN, Hicks CW, Hui DS, Schuyler Jones W, Kalahasti V, Kim KM, Milewicz DM, Oderich GS, Ogbechie L, Promes SB, Gyang Ross E, Schermerhorn ML, Singleton Times S, Tseng EE, Wang GJ, Woo YJ
Circulation 2022 Dec 13;146(24):e334-e482. Epub 2022 Nov 2 doi: 10.1161/CIR.0000000000001106. PMID: 36322642Free PMC Article
Bossone E, Eagle KA
Nat Rev Cardiol 2021 May;18(5):331-348. Epub 2020 Dec 22 doi: 10.1038/s41569-020-00472-6. PMID: 33353985
Keser G, Aksu K
Rheumatol Int 2019 Feb;39(2):169-185. Epub 2018 Sep 17 doi: 10.1007/s00296-018-4157-3. PMID: 30221327

Curated

Arslan-Kirchner M, Arbustini E, Boileau C, Child A, Collod-Beroud G, De Paepe A, Epplen J, Jondeau G, Loeys B, Faivre L
Eur J Hum Genet 2010 Sep;18(9) Epub 2010 Apr 7 doi: 10.1038/ejhg.2010.42. PMID: 20372188Free PMC Article

Orphanet, Marfan Syndrome, 2007

Suggested Reading

PubMed

Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM
J Med Genet 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785. PMID: 20591885

Recent clinical studies

Etiology

Downey RT, Aron RA
Anesthesiol Clin 2022 Dec;40(4):671-683. Epub 2022 Oct 8 doi: 10.1016/j.anclin.2022.08.011. PMID: 36328622
Pollock L, Ridout A, Teh J, Nnadi C, Stavroulias D, Pitcher A, Blair E, Wordsworth P, Vincent TL
Curr Rheumatol Rep 2021 Nov 26;23(11):81. doi: 10.1007/s11926-021-01045-3. PMID: 34825999Free PMC Article
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM
J Med Genet 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785. PMID: 20591885
Comeglio P, Johnson P, Arno G, Brice G, Evans A, Aragon-Martin J, da Silva FP, Kiotsekoglou A, Child A
Hum Mutat 2007 Sep;28(9):928. doi: 10.1002/humu.9505. PMID: 17657824
Dean JC
Eur J Hum Genet 2007 Jul;15(7):724-33. Epub 2007 May 9 doi: 10.1038/sj.ejhg.5201851. PMID: 17487218

Diagnosis

Pollock L, Ridout A, Teh J, Nnadi C, Stavroulias D, Pitcher A, Blair E, Wordsworth P, Vincent TL
Curr Rheumatol Rep 2021 Nov 26;23(11):81. doi: 10.1007/s11926-021-01045-3. PMID: 34825999Free PMC Article
Zeigler SM, Sloan B, Jones JA
Adv Exp Med Biol 2021;1348:185-206. doi: 10.1007/978-3-030-80614-9_8. PMID: 34807420Free PMC Article
Nat Rev Dis Primers 2021 Sep 2;7(1):63. doi: 10.1038/s41572-021-00304-y. PMID: 34475408
Bitterman AD, Sponseller PD
J Am Acad Orthop Surg 2017 Sep;25(9):603-609. doi: 10.5435/JAAOS-D-16-00143. PMID: 28837453
Dean JC
Eur J Hum Genet 2007 Jul;15(7):724-33. Epub 2007 May 9 doi: 10.1038/sj.ejhg.5201851. PMID: 17487218

Therapy

de la Fuente-Alonso A, Toral M, Alfayate A, Ruiz-Rodríguez MJ, Bonzón-Kulichenko E, Teixido-Tura G, Martínez-Martínez S, Méndez-Olivares MJ, López-Maderuelo D, González-Valdés I, Garcia-Izquierdo E, Mingo S, Martín CE, Muiño-Mosquera L, De Backer J, Nistal JF, Forteza A, Evangelista A, Vázquez J, Campanero MR, Redondo JM
Nat Commun 2021 May 11;12(1):2628. doi: 10.1038/s41467-021-22933-3. PMID: 33976159Free PMC Article
Mullen M, Jin XY, Child A, Stuart AG, Dodd M, Aragon-Martin JA, Gaze D, Kiotsekoglou A, Yuan L, Hu J, Foley C, Van Dyck L, Knight R, Clayton T, Swan L, Thomson JDR, Erdem G, Crossman D, Flather M; AIMS Investigators
Lancet 2019 Dec 21;394(10216):2263-2270. Epub 2019 Dec 10 doi: 10.1016/S0140-6736(19)32518-8. PMID: 31836196Free PMC Article
Hofmann Bowman MA, Eagle KA, Milewicz DM
JAMA Cardiol 2019 Jul 1;4(7):702-707. doi: 10.1001/jamacardio.2019.1176. PMID: 31066871
Wong A, Galiabovitch E, Bhagwat K
ANZ J Surg 2019 Apr;89(4):303-308. Epub 2018 Jul 5 doi: 10.1111/ans.14713. PMID: 29974615
Judge DP, Dietz HC
Lancet 2005 Dec 3;366(9501):1965-76. doi: 10.1016/S0140-6736(05)67789-6. PMID: 16325700Free PMC Article

Prognosis

Lopez-Sainz A, Mila L, Rodriguez-Palomares J, Limeres J, Granato C, La Mura L, Sabaté A, Guala A, Gutiérrez L, Galian-Gay L, Sao-Aviles A, Bellmunt S, Rodriguez R, Cuellar-Calabria H, Roque A, Ferreira-González I, Evangelista A, Teixido-Tura G
J Am Coll Cardiol 2021 Jun 22;77(24):3005-3012. doi: 10.1016/j.jacc.2021.04.054. PMID: 34140103Free PMC Article
Campens L, Baris L, Scott NS, Broberg CS, Bondue A, Jondeau G, Grewal J, Johnson MR, Hall R, De Backer J, Roos-Hesselink JW; ROPAC investigators group
Heart 2021 Nov;107(21):1704-1709. Epub 2021 Jan 19 doi: 10.1136/heartjnl-2020-318183. PMID: 33468574Free PMC Article
Vanhonsebrouck E, Consejo A, Coucke PJ, Leroy BP, Kreps EO
Acta Ophthalmol 2021 Jun;99(4):405-410. Epub 2020 Sep 30 doi: 10.1111/aos.14636. PMID: 32996688
Rezar-Dreindl S, Stifter E, Neumayer T, Papp A, Gschliesser A, Schmidt-Erfurth U
Clin Exp Ophthalmol 2019 Dec;47(9):1138-1145. Epub 2019 Aug 2 doi: 10.1111/ceo.13596. PMID: 31325202Free PMC Article
Nienaber CA, Clough RE, Sakalihasan N, Suzuki T, Gibbs R, Mussa F, Jenkins MP, Thompson MM, Evangelista A, Yeh JS, Cheshire N, Rosendahl U, Pepper J
Nat Rev Dis Primers 2016 Jul 21;2:16053. doi: 10.1038/nrdp.2016.53. PMID: 27440162

Clinical prediction guides

Pollock L, Ridout A, Teh J, Nnadi C, Stavroulias D, Pitcher A, Blair E, Wordsworth P, Vincent TL
Curr Rheumatol Rep 2021 Nov 26;23(11):81. doi: 10.1007/s11926-021-01045-3. PMID: 34825999Free PMC Article
Senser EM, Misra S, Henkin S
Cardiol Clin 2021 Nov;39(4):505-515. doi: 10.1016/j.ccl.2021.06.003. PMID: 34686263
Hofmann Bowman MA, Eagle KA, Milewicz DM
JAMA Cardiol 2019 Jul 1;4(7):702-707. doi: 10.1001/jamacardio.2019.1176. PMID: 31066871
Radke RM, Baumgartner H
Heart 2014 Sep;100(17):1382-91. Epub 2014 Apr 28 doi: 10.1136/heartjnl-2013-304709. PMID: 24777611
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM
J Med Genet 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785. PMID: 20591885

Recent systematic reviews

Requejo-García L, Martínez-López R, Plana-Andani E, Medina-Badenes P, Hernándiz-Martínez A, Torres-Blanco A, Miralles-Hernández M
Ann Vasc Surg 2022 Nov;87:548-559. Epub 2022 Aug 24 doi: 10.1016/j.avsg.2022.08.005. PMID: 36029951
Alam MK, Alfawzan AA, Shrivastava D, Srivastava KC, Alswairki HJ, Mussallam S, Abutayyem H, Ahmed N
Int J Environ Res Public Health 2022 Apr 21;19(9) doi: 10.3390/ijerph19095048. PMID: 35564443Free PMC Article
Xu H, Ma N, Guo R, Luo H, Zhang L, Liu D, Zang S, Zhao L, Zhang X, Qiao C
J Card Surg 2021 Dec;36(12):4715-4721. Epub 2021 Sep 25 doi: 10.1111/jocs.16019. PMID: 34562283
Galletti C, Camps-Font O, Teixidó-Turà G, Llobet-Poal I, Gay-Escoda C
Med Oral Patol Oral Cir Bucal 2019 Jul 1;24(4):e473-e482. doi: 10.4317/medoral.23037. PMID: 31232392Free PMC Article
Velvin G, Bathen T, Rand-Hendriksen S, Geirdal AØ
Clin Genet 2016 Jun;89(6):647-58. Epub 2016 Jan 25 doi: 10.1111/cge.12699. PMID: 26607862

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