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Morquio syndrome C

MedGen UID:
443986
Concept ID:
C2931140
Disease or Syndrome
Synonym: Morquio syndrome nonkeratosulfate-excreting type
 
Monarch Initiative: MONDO:0009647
OMIM®: 252300

Definition

Morquio syndrome is an autosomal recessive mucopolysaccharidosis characterized by short trunk dwarfism, fine corneal opacities, skeletal changes, and normal intelligence. Morquio syndromes A (MPS4A; 253000) and B (MPS4B; 253010) are caused by mutations in the N-acetylglucosamine-6-sulfate sulfatase (GALNS; 612222) and beta-galactosidase (GLB1; 611458) genes, respectively. MPS4A and MPS4B are characterized biochemically by increased urinary excretion of keratan sulfate (Beck et al., 1986). There is some evidence of an additional form of Morquio syndrome, referred to here as type C, in which urinary excretion of keratan sulfate is absent. However, McKusick (1972) suggested that the nonkeratosulfate- excreting Morquio syndrome may be allelic to other forms of Morquio syndrome. [from OMIM]

Clinical features

From HPO
Severe short stature
MedGen UID:
3931
Concept ID:
C0013336
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Spondyloepiphyseal dysplasia
MedGen UID:
20916
Concept ID:
C0038015
Finding
A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Shoe-shaped sella turcica
MedGen UID:
870693
Concept ID:
C4025147
Finding
Corneal opacity
MedGen UID:
40485
Concept ID:
C0010038
Finding
A reduction of corneal clarity.
Metachromasia of fibroblasts
MedGen UID:
322549
Concept ID:
C1835008
Finding
Increased cytoplasmic staining of fibroblasts with toluidine blue.

Professional guidelines

PubMed

Chien YH, Lee NC, Chen PW, Yeh HY, Gelb MH, Chiu PC, Chu SY, Lee CH, Lee AR, Hwu WL
Orphanet J Rare Dis 2020 Feb 3;15(1):38. doi: 10.1186/s13023-020-1322-z. PMID: 32014045Free PMC Article
Solanki GA, Martin KW, Theroux MC, Lampe C, White KK, Shediac R, Lampe CG, Beck M, Mackenzie WG, Hendriksz CJ, Harmatz PR
J Inherit Metab Dis 2013 Mar;36(2):339-55. Epub 2013 Feb 6 doi: 10.1007/s10545-013-9586-2. PMID: 23385297Free PMC Article
Hendriksz CJ, Al-Jawad M, Berger KI, Hawley SM, Lawrence R, Mc Ardle C, Summers CG, Wright E, Braunlin E
J Inherit Metab Dis 2013 Mar;36(2):309-22. Epub 2012 Feb 23 doi: 10.1007/s10545-012-9459-0. PMID: 22358740Free PMC Article

Recent clinical studies

Etiology

Tylki-Szymańska A, Almássy Z, Christophidou-Anastasiadou V, Avdjieva-Tzavella D, Barisic I, Cerkauskiene R, Cuturilo G, Djiordjevic M, Gucev Z, Hlavata A, Kieć-Wilk B, Magner M, Pecin I, Plaiasu V, Samardzic M, Zafeiriou D, Zaganas I, Lampe C
Orphanet J Rare Dis 2022 Mar 24;17(1):136. doi: 10.1186/s13023-022-02285-x. PMID: 35331284Free PMC Article
Losada Díaz JC, Cepeda Del Castillo J, Rodriguez-López EA, Alméciga-Díaz CJ
Int J Mol Sci 2019 Dec 29;21(1) doi: 10.3390/ijms21010232. PMID: 31905715Free PMC Article
Reichert R, Campos LG, Vairo F, de Souza CF, Pérez JA, Duarte JÁ, Leiria FA, Anés M, Vedolin LM
Radiographics 2016 Sep-Oct;36(5):1448-62. doi: 10.1148/rg.2016150168. PMID: 27618324
Ahmed R, Traynelis VC, Menezes AH
Childs Nerv Syst 2008 Oct;24(10):1209-24. Epub 2008 Apr 4 doi: 10.1007/s00381-008-0607-7. PMID: 18389260
Gilbert-Barness E
Ann Clin Lab Sci 2004 Winter;34(1):15-34. PMID: 15038665

Diagnosis

Zanetti A, D'Avanzo F, AlSayed M, Brusius-Facchin AC, Chien YH, Giugliani R, Izzo E, Kasper DC, Lin HY, Lin SP, Pollard L, Singh A, Tonin R, Wood T, Morrone A, Tomanin R
Hum Mutat 2021 Nov;42(11):1384-1398. Epub 2021 Aug 23 doi: 10.1002/humu.24270. PMID: 34387910Free PMC Article
Caciotti A, Cellai L, Tonin R, Mei D, Procopio E, Di Rocco M, Andaloro A, Antuzzi D, Rampazzo A, Rigoldi M, Forni G, la Marca G, Guerrini R, Morrone A
Mol Genet Metab 2021 Mar;132(3):180-188. Epub 2021 Feb 1 doi: 10.1016/j.ymgme.2021.01.008. PMID: 33558080
Díaz-Flores L, Gutiérrez R, García MP, Gayoso S, Gutiérrez E, Díaz-Flores L Jr, Carrasco JL
Int J Mol Sci 2020 Jun 17;21(12) doi: 10.3390/ijms21124320. PMID: 32560571Free PMC Article
Khan S, Alméciga-Díaz CJ, Sawamoto K, Mackenzie WG, Theroux MC, Pizarro C, Mason RW, Orii T, Tomatsu S
Mol Genet Metab 2017 Jan-Feb;120(1-2):78-95. Epub 2016 Nov 29 doi: 10.1016/j.ymgme.2016.11.007. PMID: 27979613Free PMC Article
Solanki GA, Martin KW, Theroux MC, Lampe C, White KK, Shediac R, Lampe CG, Beck M, Mackenzie WG, Hendriksz CJ, Harmatz PR
J Inherit Metab Dis 2013 Mar;36(2):339-55. Epub 2013 Feb 6 doi: 10.1007/s10545-013-9586-2. PMID: 23385297Free PMC Article

Therapy

Nakamura-Utsunomiya A, Nakamae T, Kagawa R, Karakawa S, Sakata S, Sakura F, Tani C, Matsubara Y, Ishino T, Tajima G, Okada S
Int J Mol Sci 2020 Feb 2;21(3) doi: 10.3390/ijms21030989. PMID: 32024277Free PMC Article
Sosa AC, Kariuki B, Gan Q, Knutsen AP, Bellone CJ, Guzmán MA, Barrera LA, Tomatsu S, Chauhan AK, Armbrecht E, Montaño AM
J Clin Invest 2020 Mar 2;130(3):1288-1300. doi: 10.1172/JCI125607. PMID: 31743109Free PMC Article
Alméciga-Diaz CJ, Barrera LA
Gene Ther 2020 Feb;27(1-2):104-107. Epub 2019 Jul 2 doi: 10.1038/s41434-019-0086-3. PMID: 31267008
Khan S, Alméciga-Díaz CJ, Sawamoto K, Mackenzie WG, Theroux MC, Pizarro C, Mason RW, Orii T, Tomatsu S
Mol Genet Metab 2017 Jan-Feb;120(1-2):78-95. Epub 2016 Nov 29 doi: 10.1016/j.ymgme.2016.11.007. PMID: 27979613Free PMC Article
Ahmed R, Traynelis VC, Menezes AH
Childs Nerv Syst 2008 Oct;24(10):1209-24. Epub 2008 Apr 4 doi: 10.1007/s00381-008-0607-7. PMID: 18389260

Prognosis

Wiśniewska K, Gaffke L, Krzelowska K, Węgrzyn G, Pierzynowska K
Gene 2022 Feb 20;812:146090. Epub 2021 Dec 8 doi: 10.1016/j.gene.2021.146090. PMID: 34896230
Pachajoa H, Acosta MA, Alméciga-Díaz CJ, Ariza Y, Diaz-Ordoñez L, Caicedo-Herrera G, Cuartas D, Nastasi-Catanese JA, Ramírez-Montaño D, Silva YK, Moreno L, Satizabal J, Garcia N, Montoya J, Prada C, Porras G, Velasco H, Candelo E
Am J Med Genet C Semin Med Genet 2021 Sep;187(3):388-395. Epub 2021 Sep 20 doi: 10.1002/ajmg.c.31936. PMID: 34542925
Chien YH, Lee NC, Chen PW, Yeh HY, Gelb MH, Chiu PC, Chu SY, Lee CH, Lee AR, Hwu WL
Orphanet J Rare Dis 2020 Feb 3;15(1):38. doi: 10.1186/s13023-020-1322-z. PMID: 32014045Free PMC Article
Steward M, Berezovskaya Y, Zhou H, Shediac R, Sun C, Miller N, Rendle PM
Clin Biochem 2015 Aug;48(12):796-802. Epub 2015 Apr 10 doi: 10.1016/j.clinbiochem.2015.03.024. PMID: 25866399
Gilbert-Barness E
Ann Clin Lab Sci 2004 Winter;34(1):15-34. PMID: 15038665

Clinical prediction guides

Sheth H, Naik P, Shah M, Bhavsar R, Nair A, Sheth F, Sheth J
BMC Genomics 2022 Jun 21;23(1):458. doi: 10.1186/s12864-022-08693-4. PMID: 35729508Free PMC Article
Dos Santos-Lopes SS, de Oliveira JMF, de Queiroga Nascimento D, Montenegro YHA, Leistner-Segal S, Brusius-Facchin AC, Eufrazino Gondim C, Giugliani R, de Medeiros PFV
Am J Med Genet A 2021 Oct;185(10):2929-2940. Epub 2021 Jun 2 doi: 10.1002/ajmg.a.62375. PMID: 34076347
Moisan L, Iannuzzi D, Maranda B, Campeau PM, Mitchell JJ
Orphanet J Rare Dis 2020 Sep 29;15(1):270. doi: 10.1186/s13023-020-01545-y. PMID: 32993725Free PMC Article
Díaz-Flores L, Gutiérrez R, García MP, Gayoso S, Gutiérrez E, Díaz-Flores L Jr, Carrasco JL
Int J Mol Sci 2020 Jun 17;21(12) doi: 10.3390/ijms21124320. PMID: 32560571Free PMC Article
Chien YH, Lee NC, Chen PW, Yeh HY, Gelb MH, Chiu PC, Chu SY, Lee CH, Lee AR, Hwu WL
Orphanet J Rare Dis 2020 Feb 3;15(1):38. doi: 10.1186/s13023-020-1322-z. PMID: 32014045Free PMC Article

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