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Dural ectasia

MedGen UID:
377094
Concept ID:
C1851712
Finding
HPO: HP:0100775

Definition

A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level. [from HPO]

Conditions with this feature

Marfan syndrome
MedGen UID:
44287
Concept ID:
C0024796
Disease or 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.
Lateral meningocele syndrome
MedGen UID:
342070
Concept ID:
C1851710
Disease or Syndrome
NOTCH3-related lateral meningocele syndrome (LMS) is characterized by multiple lateral spinal meningoceles (protrusions of the arachnoid and dura through spinal foramina), distinctive facial features, joint hyperextensibility, hypotonia, and skeletal, cardiac, and urogenital anomalies. Neurologic sequelæ of the meningoceles depend on size and location and can include neurogenic bladder, paresthesia, back pain, and/or paraparesis. Other neurologic findings can include Chiari I malformation, syringomyelia, and rarely, hydrocephalus. Additional findings of LMS include developmental delay, mixed or conductive hearing loss, and cleft palate. Skeletal abnormalities may include scoliosis, vertebral fusion, scalloping of vertebrae, and wormian bones. Infants may demonstrate feeding difficulties with poor weight gain.
MASS syndrome
MedGen UID:
346932
Concept ID:
C1858556
Disease or Syndrome
A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms.
Loeys-Dietz syndrome 2
MedGen UID:
382398
Concept ID:
C2674574
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
Aneurysm-osteoarthritis syndrome
MedGen UID:
462437
Concept ID:
C3151087
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
Loeys-Dietz syndrome 4
MedGen UID:
766676
Concept ID:
C3553762
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
Aortic aneurysm, familial thoracic 9
MedGen UID:
863805
Concept ID:
C4015368
Disease or Syndrome
Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene.
Aortic aneurysm, familial thoracic 10
MedGen UID:
924785
Concept ID:
C4284414
Disease or Syndrome
Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene.
Progeroid and marfanoid aspect-lipodystrophy syndrome
MedGen UID:
934763
Concept ID:
C4310796
Disease or Syndrome
The marfanoid-progeroid-lipodystrophy syndrome (MFLS) is characterized by congenital lipodystrophy, premature birth with an accelerated linear growth disproportionate to weight gain, and progeroid appearance with distinct facial features, including proptosis, downslanting palpebral fissures, and retrognathia. Other characteristic features include arachnodactyly, digital hyperextensibility, myopia, dural ectasia, and normal psychomotor development (Takenouchi et al., 2013). Takenouchi et al. (2013) noted phenotypic overlap with Marfan syndrome (154700) and Shprintzen-Goldberg craniosynostosis syndrome (182212).

Professional guidelines

PubMed

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
Polster SP, Dougherty MC, Zeineddine HA, Lyne SB, Smith HL, MacKenzie C, Pytel P, Yang CW, Tonsgard JH, Warnke PC, Frim DM
Neurosurgery 2020 May 1;86(5):646-655. doi: 10.1093/neuros/nyz244. PMID: 31350851
Dean JC
Eur J Hum Genet 2007 Jul;15(7):724-33. Epub 2007 May 9 doi: 10.1038/sj.ejhg.5201851. PMID: 17487218

Recent clinical studies

Etiology

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
Matsushima S, Shimizu T, Baba A, Ojiri H
Neuroradiol J 2021 Oct;34(5):401-407. Epub 2021 Mar 3 doi: 10.1177/1971400921998970. PMID: 33657903Free PMC Article
Marrache M, Byers PH, Sponseller PD
JBJS Rev 2020 Jun;8(6):e0122. doi: 10.2106/JBJS.RVW.19.00122. PMID: 33006458
Polster SP, Dougherty MC, Zeineddine HA, Lyne SB, Smith HL, MacKenzie C, Pytel P, Yang CW, Tonsgard JH, Warnke PC, Frim DM
Neurosurgery 2020 May 1;86(5):646-655. doi: 10.1093/neuros/nyz244. PMID: 31350851
Böker T, Vanem TT, Pripp AH, Rand-Hendriksen S, Paus B, Smith HJ, Lundby R
Spine J 2019 Aug;19(8):1412-1421. Epub 2019 Apr 15 doi: 10.1016/j.spinee.2019.04.010. PMID: 30998996

Diagnosis

Kempers MJ, Wessels M, Van Berendoncks A, van de Laar IM, de Leeuw N, Loeys B
Eur J Med Genet 2022 Oct;65(10):104593. Epub 2022 Aug 11 doi: 10.1016/j.ejmg.2022.104593. PMID: 35964930
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
Polster SP, Dougherty MC, Zeineddine HA, Lyne SB, Smith HL, MacKenzie C, Pytel P, Yang CW, Tonsgard JH, Warnke PC, Frim DM
Neurosurgery 2020 May 1;86(5):646-655. doi: 10.1093/neuros/nyz244. PMID: 31350851
Böker T, Vanem TT, Pripp AH, Rand-Hendriksen S, Paus B, Smith HJ, Lundby R
Spine J 2019 Aug;19(8):1412-1421. Epub 2019 Apr 15 doi: 10.1016/j.spinee.2019.04.010. PMID: 30998996
Shirley ED, Sponseller PD
J Am Acad Orthop Surg 2009 Sep;17(9):572-81. doi: 10.5435/00124635-200909000-00004. PMID: 19726741

Therapy

Weinstein J, Shinfeld A, Simchen M, Cahan T, Frogel J, Arad M, Berkenstadt H, Kuperstein R
Isr Med Assoc J 2021 Jul;23(7):437-440. PMID: 34251127
Wang X, Yu Y, Yang N, Xia L
J Orthop Surg Res 2020 Oct 21;15(1):485. doi: 10.1186/s13018-020-02015-8. PMID: 33087139Free PMC Article
Sheridan GA, Godkin O, Devitt A
BMJ Case Rep 2017 Aug 30;2017 doi: 10.1136/bcr-2017-221439. PMID: 28855219Free PMC Article
Martín-Fuentes AM, Pretell-Mazzini J, Curto de la Mano A, Viña-Fernández R
J Pediatr Orthop B 2013 Mar;22(2):110-6. doi: 10.1097/BPB.0b013e328357eac2. PMID: 22863687
Knirsch W, Kurtz C, Häffner N, Binz G, Heim P, Winkler P, Baumgartner D, Freund-Unsinn K, Stern H, Kaemmerer H, Molinari L, Kececioglu D, Uhlemann F
Am J Med Genet A 2006 Apr 1;140(7):775-81. doi: 10.1002/ajmg.a.31158. PMID: 16523504

Prognosis

Curtis-Lopez CM, Soh C, Ealing J, Gareth Evans D, Burkitt Wright EMM, Vassallo G, Karabatsou K, Joshi George K
J Clin Neurosci 2020 Jul;77:98-105. Epub 2020 May 13 doi: 10.1016/j.jocn.2020.05.014. PMID: 32417129
Polster SP, Dougherty MC, Zeineddine HA, Lyne SB, Smith HL, MacKenzie C, Pytel P, Yang CW, Tonsgard JH, Warnke PC, Frim DM
Neurosurgery 2020 May 1;86(5):646-655. doi: 10.1093/neuros/nyz244. PMID: 31350851
Shah S, George KJ
Br J Neurosurg 2019 Dec;33(6):620-623. Epub 2019 Oct 4 doi: 10.1080/02688697.2019.1673313. PMID: 31583907
Mesfin A, Ahn NU, Carrino JA, Sponseller PD
Spine J 2013 Jan;13(1):62-7. Epub 2012 Dec 6 doi: 10.1016/j.spinee.2012.10.021. PMID: 23218825
Ahn NU, Sponseller PD, Ahn UM, Nallamshetty L, Rose PS, Buchowski JM, Garrett ES, Kuszyk BS, Fishman EK, Zinreich SJ
Genet Med 2000 May-Jun;2(3):173-9. doi: 10.1097/00125817-200005000-00003. PMID: 11256662

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
Ito K, Kawakami N, Ohara T, Saito T, Tauchi R
J Pediatr Orthop B 2021 May 1;30(3):235-238. doi: 10.1097/BPB.0000000000000745. PMID: 32694435
Curtis-Lopez CM, Soh C, Ealing J, Gareth Evans D, Burkitt Wright EMM, Vassallo G, Karabatsou K, Joshi George K
J Clin Neurosci 2020 Jul;77:98-105. Epub 2020 May 13 doi: 10.1016/j.jocn.2020.05.014. PMID: 32417129
Debette S, Germain DP
Handb Clin Neurol 2014;119:565-76. doi: 10.1016/B978-0-7020-4086-3.00037-0. PMID: 24365320
Mesfin A, Ahn NU, Carrino JA, Sponseller PD
Spine J 2013 Jan;13(1):62-7. Epub 2012 Dec 6 doi: 10.1016/j.spinee.2012.10.021. PMID: 23218825

Recent systematic reviews

Lehner K, Lubelski D, Witham T, Luciano M, Tuffaha S, Yang R, Yang S, Belzberg A
Clin Neurol Neurosurg 2021 Nov;210:106996. Epub 2021 Oct 22 doi: 10.1016/j.clineuro.2021.106996. PMID: 34739882
Wang X, Yu Y, Yang N, Xia L
J Orthop Surg Res 2020 Oct 21;15(1):485. doi: 10.1186/s13018-020-02015-8. PMID: 33087139Free PMC Article

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