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MASS syndrome(OCTD)

MedGen UID:
346932
Concept ID:
C1858556
Disease or Syndrome
Synonyms: OCTD; Overlap connective tissue disease
 
Gene (location): FBN1 (15q21.1)
 
Monarch Initiative: MONDO:0011431
OMIM®: 604308
Orphanet: ORPHA99715

Definition

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. [from MONDO]

Clinical features

From HPO
Arachnodactyly
MedGen UID:
2047
Concept ID:
C0003706
Congenital Abnormality
Abnormally long and slender fingers ("spider fingers").
Aortic aneurysm
MedGen UID:
362
Concept ID:
C0003486
Disease or Syndrome
Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.
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.
Ascending aortic dissection
MedGen UID:
322966
Concept ID:
C1836653
Disease or Syndrome
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.
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.
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.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
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.
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.
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.

Professional guidelines

PubMed

Gilani SI, Buglioni A, Cornell LD
Semin Diagn Pathol 2024 Mar;41(2):88-94. Epub 2023 Dec 20 doi: 10.1053/j.semdp.2023.12.001. PMID: 38246802
Pruvot AS, Curey S, Derrey S, Castel H, Proust F
Neurochirurgie 2016 Feb;62(1):20-4. Epub 2013 Nov 5 doi: 10.1016/j.neuchi.2013.06.004. PMID: 24210289
Erdös G, Tzanova I
Eur J Anaesthesiol 2009 Aug;26(8):627-32. doi: 10.1097/EJA.0b013e328324b7f8. PMID: 19384235

Recent clinical studies

Etiology

Barazzoni R, Jensen GL, Correia MITD, Gonzalez MC, Higashiguchi T, Shi HP, Bischoff SC, Boirie Y, Carrasco F, Cruz-Jentoft A, Fuchs-Tarlovsky V, Fukushima R, Heymsfield S, Mourtzakis M, Muscaritoli M, Norman K, Nyulasi I, Pisprasert V, Prado C, de van der Schuren M, Yoshida S, Yu Y, Cederholm T, Compher C
Clin Nutr 2022 Jun;41(6):1425-1433. Epub 2022 Apr 19 doi: 10.1016/j.clnu.2022.02.001. PMID: 35450768
Forzini T, Demouron M, Uhl M, Mesureur S, Renard C, Klein C, Haraux E
J Pediatr Urol 2019 Oct;15(5):555.e1-555.e5. Epub 2019 Jun 21 doi: 10.1016/j.jpurol.2019.06.011. PMID: 31324475
Gaujoux S, Weinandt M, Bonnet S, Reslinger V, Bertherat J, Dousset B
J Visc Surg 2017 Oct;154(5):335-343. Epub 2017 Jul 25 doi: 10.1016/j.jviscsurg.2017.06.010. PMID: 28754418
Paterick TE, Humphries JA, Ammar KA, Jan MF, Loberg R, Bush M, Khandheria BK, Tajik AJ
Am J Med 2013 Aug;126(8):670-8. Epub 2013 Jun 22 doi: 10.1016/j.amjmed.2013.01.029. PMID: 23800581
Ralston SH
J Clin Endocrinol Metab 2002 Jun;87(6):2460-6. doi: 10.1210/jcem.87.6.8621. PMID: 12050200

Diagnosis

Barazzoni R, Jensen GL, Correia MITD, Gonzalez MC, Higashiguchi T, Shi HP, Bischoff SC, Boirie Y, Carrasco F, Cruz-Jentoft A, Fuchs-Tarlovsky V, Fukushima R, Heymsfield S, Mourtzakis M, Muscaritoli M, Norman K, Nyulasi I, Pisprasert V, Prado C, de van der Schuren M, Yoshida S, Yu Y, Cederholm T, Compher C
Clin Nutr 2022 Jun;41(6):1425-1433. Epub 2022 Apr 19 doi: 10.1016/j.clnu.2022.02.001. PMID: 35450768
Gaujoux S, Weinandt M, Bonnet S, Reslinger V, Bertherat J, Dousset B
J Visc Surg 2017 Oct;154(5):335-343. Epub 2017 Jul 25 doi: 10.1016/j.jviscsurg.2017.06.010. PMID: 28754418
Paterick TE, Humphries JA, Ammar KA, Jan MF, Loberg R, Bush M, Khandheria BK, Tajik AJ
Am J Med 2013 Aug;126(8):670-8. Epub 2013 Jun 22 doi: 10.1016/j.amjmed.2013.01.029. PMID: 23800581
Sarrazin JL, Bonneville F, Martin-Blondel G
Diagn Interv Imaging 2012 Jun;93(6):473-90. Epub 2012 Jun 5 doi: 10.1016/j.diii.2012.04.020. PMID: 22677301
de Vernejoul MC
Best Pract Res Clin Rheumatol 2008 Mar;22(1):71-83. doi: 10.1016/j.berh.2007.12.011. PMID: 18328982

Therapy

Calixto-Lima L, Souza-Silva R, Oliveira LC, Chaves GV, Wiegert EVM
Nutr Clin Pract 2022 Dec;37(6):1385-1399. Epub 2022 May 17 doi: 10.1002/ncp.10857. PMID: 35579077
Andrews CN, Woo M, Buresi M, Curley M, Gupta M, Tack J, Wilsack L, Nasser Y
Neurogastroenterol Motil 2021 Jan;33(1):e13958. Epub 2020 Aug 2 doi: 10.1111/nmo.13958. PMID: 32743954
Geurten C, Geurten M, Rigo V, Dresse MF
J Pediatr Hematol Oncol 2020 Jul;42(5):e286-e292. doi: 10.1097/MPH.0000000000001692. PMID: 31815889
Verstraeten A, Alaerts M, Van Laer L, Loeys B
Hum Mutat 2016 Jun;37(6):524-31. Epub 2016 Mar 14 doi: 10.1002/humu.22977. PMID: 26919284
Sioulas VD, Gracia CR
J Assist Reprod Genet 2012 Mar;29(3):271-5. Epub 2011 Dec 29 doi: 10.1007/s10815-011-9697-3. PMID: 22205344Free PMC Article

Prognosis

Forzini T, Demouron M, Uhl M, Mesureur S, Renard C, Klein C, Haraux E
J Pediatr Urol 2019 Oct;15(5):555.e1-555.e5. Epub 2019 Jun 21 doi: 10.1016/j.jpurol.2019.06.011. PMID: 31324475
Gaujoux S, Weinandt M, Bonnet S, Reslinger V, Bertherat J, Dousset B
J Visc Surg 2017 Oct;154(5):335-343. Epub 2017 Jul 25 doi: 10.1016/j.jviscsurg.2017.06.010. PMID: 28754418
Paterick TE, Humphries JA, Ammar KA, Jan MF, Loberg R, Bush M, Khandheria BK, Tajik AJ
Am J Med 2013 Aug;126(8):670-8. Epub 2013 Jun 22 doi: 10.1016/j.amjmed.2013.01.029. PMID: 23800581
Sarrazin JL, Bonneville F, Martin-Blondel G
Diagn Interv Imaging 2012 Jun;93(6):473-90. Epub 2012 Jun 5 doi: 10.1016/j.diii.2012.04.020. PMID: 22677301
Ralston SH
J Clin Endocrinol Metab 2002 Jun;87(6):2460-6. doi: 10.1210/jcem.87.6.8621. PMID: 12050200

Clinical prediction guides

Chen H, Yang KG, Zhang J, Cheuk KY, Nepotchatykh E, Wang Y, Hung AL, Lam TP, Moreau A, Lee WY
Sci Rep 2022 Jun 11;12(1):9705. doi: 10.1038/s41598-022-12938-3. PMID: 35690607Free PMC Article
Calixto-Lima L, Souza-Silva R, Oliveira LC, Chaves GV, Wiegert EVM
Nutr Clin Pract 2022 Dec;37(6):1385-1399. Epub 2022 May 17 doi: 10.1002/ncp.10857. PMID: 35579077
Andrews CN, Woo M, Buresi M, Curley M, Gupta M, Tack J, Wilsack L, Nasser Y
Neurogastroenterol Motil 2021 Jan;33(1):e13958. Epub 2020 Aug 2 doi: 10.1111/nmo.13958. PMID: 32743954
Forzini T, Demouron M, Uhl M, Mesureur S, Renard C, Klein C, Haraux E
J Pediatr Urol 2019 Oct;15(5):555.e1-555.e5. Epub 2019 Jun 21 doi: 10.1016/j.jpurol.2019.06.011. PMID: 31324475
Ralston SH
J Clin Endocrinol Metab 2002 Jun;87(6):2460-6. doi: 10.1210/jcem.87.6.8621. PMID: 12050200

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