KEGG   DISEASE: Meier-Gorlin syndromeHelp
Entry
H01889                      Disease                                

Name
Meier-Gorlin syndrome;
Ear-patella-short statute syndrome
Description
Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome characterized by microtia, patellar aplasia/hypoplasia, and a proportionate short stature. Additional clinical findings include pulmonary emphysema, feeding difficulties, urogenital abnormalities, and mammary hypoplasia. Characteristic facial features, which gradually change with age, are frequently described. Infants typically have a small mouth with full lips and micrognathia, whereas in adults, a high forehead and a more prominent, narrow nose with a broad nasal bridge are distinguishable. The diagnosis of MGS should be considered in patients with at least two of the three features of the clinical triad of microtia, patellar anomalies, and pre- and postnatal growth retardation. Mutations in genes involved in DNA-replication have been detected in patients with MGS.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H01889  Meier-Gorlin syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H01889  Meier-Gorlin syndrome
BRITE hierarchy
Pathway
hsa04110 Cell cycle   
Gene
(MGORS1) ORC1 [HSA:4998] [KO:K02603]
(MGORS2) ORC4 [HSA:5000] [KO:K02606]
(MGORS3) ORC6 [HSA:23594] [KO:K02608]
(MGORS4) CDT1 [HSA:81620] [KO:K10727]
(MGORS5) CDC6 [HSA:990] [KO:K02213]
(MGORS6) GMNN [HSA:51053] [KO:K10749]
(MGORS7) CDC45 [HSA:8318] [KO:K06628]
Other DBs
ICD-11: LD24.JY
ICD-10: Q87.1
MeSH: C538012
OMIM: 224690 613800 613803 613804 613805 616835 617063
Reference
  Authors
MEIER Z, POSCHIAVO, ROTHSCHILD M
  Title
[Case of arthrogryposis multiplex congenita with mandibulofacial dysostosis (Franceschetti syndrome)].
  Journal
Helv Paediatr Acta 14:213-6 (1959)
Reference
  Authors
de Munnik SA, Hoefsloot EH, Roukema J, Schoots J, Knoers NV, Brunner HG, Jackson AP, Bongers EM
  Title
Meier-Gorlin syndrome.
  Journal
Orphanet J Rare Dis 10:114 (2015)
DOI:10.1186/s13023-015-0322-x
Reference
  Authors
Bongers EM, Opitz JM, Fryer A, Sarda P, Hennekam RC, Hall BD, Superneau DW, Harbison M, Poss A, van Bokhoven H, Hamel BC, Knoers NV
  Title
Meier-Gorlin syndrome: report of eight additional cases and review.
  Journal
Am J Med Genet 102:115-24 (2001)
DOI:10.1002/ajmg.1452
Reference
  Authors
de Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Clayton-Smith J, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Schoots J, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM
  Title
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
  Journal
Eur J Hum Genet 20:598-606 (2012)
DOI:10.1038/ejhg.2011.269
Reference
  Authors
Burrage LC, Charng WL, Eldomery MK, Willer JR, Davis EE, Lugtenberg D, Zhu W, Leduc MS, Akdemir ZC, Azamian M, Zapata G, Hernandez PP, Schoots J, de Munnik SA, Roepman R, Pearring JN, Jhangiani S, Katsanis N, Vissers LE, Brunner HG, Beaudet AL, Rosenfeld JA, Muzny DM, Gibbs RA, Eng CM, Xia F, Lalani SR, Lupski JR, Bongers EM, Yang Y
  Title
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
  Journal
Am J Hum Genet 97:904-13 (2015)
DOI:10.1016/j.ajhg.2015.11.006
Reference
  Authors
Bicknell LS, Walker S, Klingseisen A, Stiff T, Leitch A, Kerzendorfer C, Martin CA, Yeyati P, Al Sanna N, Bober M, Johnson D, Wise C, Jackson AP, O'Driscoll M, Jeggo PA
  Title
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.
  Journal
Nat Genet 43:350-5 (2011)
DOI:10.1038/ng.776
Reference
  Authors
Guernsey DL, Matsuoka M, Jiang H, Evans S, Macgillivray C, Nightingale M, Perry S, Ferguson M, LeBlanc M, Paquette J, Patry L, Rideout AL, Thomas A, Orr A, McMaster CR, Michaud JL, Deal C, Langlois S, Superneau DW, Parkash S, Ludman M, Skidmore DL, Samuels ME
  Title
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.
  Journal
Nat Genet 43:360-4 (2011)
DOI:10.1038/ng.777
Reference
  Authors
Bicknell LS, Bongers EM, Leitch A, Brown S, Schoots J, Harley ME, Aftimos S, Al-Aama JY, Bober M, Brown PA, van Bokhoven H, Dean J, Edrees AY, Feingold M, Fryer A, Hoefsloot LH, Kau N, Knoers NV, Mackenzie J, Opitz JM, Sarda P, Ross A, Temple IK, Toutain A, Wise CA, Wright M, Jackson AP
  Title
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
  Journal
Nat Genet 43:356-9 (2011)
DOI:10.1038/ng.775
Reference
  Authors
Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SR, Goriely A, McGowan SJ, Miller KA, Taylor IB, Logan C, Bozdogan S, Danda S, Dixon J, Elsayed SM, Elsobky E, Gardham A, Hoffer MJ, Koopmans M, McDonald-McGinn DM, Santen GW, Savarirayan R, de Silva D, Vanakker O, Wall SA, Wilson LC, Yuregir OO, Zackai EH, Ponting CP, Jackson AP, Wilkie AO, Niedzwiedz W, Bicknell LS
  Title
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.
  Journal
Am J Hum Genet 99:125-38 (2016)
DOI:10.1016/j.ajhg.2016.05.019
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