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Meier-Gorlin syndrome(MGORS1)

MedGen UID:
401501
Concept ID:
C1868684
Disease or Syndrome
Synonym: MGORS1
SNOMED CT: Microtia, absent patellae, micrognathia syndrome (703508009); Meier-Gorlin syndrome (703508009); Ear, patella, short stature syndrome (703508009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
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.
 
Monarch Initiative: MONDO:0016817
OMIM®: 224690
OMIM® Phenotypic series: PS224690
Orphanet: ORPHA2554

Definition

Abnormalities in sexual development may also occur in Meier-Gorlin syndrome. In some males with this condition, the testes are small or undescended (cryptorchidism). Affected females may have unusually small external genital folds (hypoplasia of the labia majora) and small breasts. Both males and females with this condition can have sparse or absent underarm (axillary) hair.

Additional features of Meier-Gorlin syndrome can include difficulty feeding and a lung condition known as pulmonary emphysema or other breathing problems.

Meier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this condition are underdeveloped or missing kneecaps (patellae), small ears, and, often, an abnormally small head (microcephaly). Despite a small head size, most people with Meier-Gorlin syndrome have normal intellect.

Some people with Meier-Gorlin syndrome have other skeletal abnormalities, such as unusually narrow long bones in the arms and legs, a deformity of the knee joint that allows the knee to bend backwards (genu recurvatum), and slowed mineralization of bones (delayed bone age).

Most people with Meier-Gorlin syndrome have distinctive facial features. In addition to being abnormally small, the ears may be low-set or rotated backward. Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge. [from MedlinePlus Genetics]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMeier-Gorlin syndrome
Follow this link to review classifications for Meier-Gorlin syndrome in Orphanet.

Professional guidelines

PubMed

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
Eur J Hum Genet 2012 Jun;20(6):598-606. Epub 2012 Feb 15 doi: 10.1038/ejhg.2011.269. PMID: 22333897Free PMC Article

Recent clinical studies

Etiology

Worm C, Schambye MER, Mkrtchyan GV, Veviorskiy A, Shneyderman A, Ozerov IV, Zhavoronkov A, Bakula D, Scheibye-Knudsen M
Aging (Albany NY) 2024 Feb 9;16(3):2026-2046. doi: 10.18632/aging.205537. PMID: 38345566Free PMC Article
Nielsen-Dandoroff E, Ruegg MSG, Bicknell LS
Eur J Hum Genet 2023 Aug;31(8):859-868. Epub 2023 Apr 14 doi: 10.1038/s41431-023-01359-z. PMID: 37059840Free PMC Article
de Munnik SA, Hoefsloot EH, Roukema J, Schoots J, Knoers NV, Brunner HG, Jackson AP, Bongers EM
Orphanet J Rare Dis 2015 Sep 17;10:114. doi: 10.1186/s13023-015-0322-x. PMID: 26381604Free PMC Article
de Munnik SA, Otten BJ, Schoots J, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Borm GF, Clayton-Smith J, Deal CL, 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, Sluiter AE, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM
Am J Med Genet A 2012 Nov;158A(11):2733-42. Epub 2012 Sep 28 doi: 10.1002/ajmg.a.35681. PMID: 23023959
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
Eur J Hum Genet 2012 Jun;20(6):598-606. Epub 2012 Feb 15 doi: 10.1038/ejhg.2011.269. PMID: 22333897Free PMC Article

Diagnosis

Nielsen-Dandoroff E, Ruegg MSG, Bicknell LS
Eur J Hum Genet 2023 Aug;31(8):859-868. Epub 2023 Apr 14 doi: 10.1038/s41431-023-01359-z. PMID: 37059840Free PMC Article
Li X, Zhang LZ, Yu L, Long ZL, Lin AY, Gou CY
BMC Pregnancy Childbirth 2021 May 17;21(1):381. doi: 10.1186/s12884-021-03868-5. PMID: 34000999Free PMC Article
Ting CY, Bhatia NS, Lim JY, Goh CJ, Vasanwala RF, Ong CC, Seow WT, Yeow VK, Ting TW, Ng IS, Jamuar SS
Eur J Med Genet 2020 Feb;63(2):103652. Epub 2019 Apr 13 doi: 10.1016/j.ejmg.2019.04.009. PMID: 30986546
de Munnik SA, Hoefsloot EH, Roukema J, Schoots J, Knoers NV, Brunner HG, Jackson AP, Bongers EM
Orphanet J Rare Dis 2015 Sep 17;10:114. doi: 10.1186/s13023-015-0322-x. PMID: 26381604Free PMC Article
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
Am J Med Genet 2001 Aug 1;102(2):115-24. doi: 10.1002/ajmg.1452. PMID: 11477602

Therapy

de Munnik SA, Otten BJ, Schoots J, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Borm GF, Clayton-Smith J, Deal CL, 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, Sluiter AE, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM
Am J Med Genet A 2012 Nov;158A(11):2733-42. Epub 2012 Sep 28 doi: 10.1002/ajmg.a.35681. PMID: 23023959

Prognosis

Nazarenko MS, Viakhireva IV, Skoblov MY, Soloveva EV, Sleptcov AA, Nazarenko LP
Int J Mol Sci 2022 Aug 17;23(16) doi: 10.3390/ijms23169234. PMID: 36012502Free PMC Article
Knapp KM, Fellows B, Aggarwal S, Dalal A, Bicknell LS
Eur J Med Genet 2021 Apr;64(4):104182. Epub 2021 Feb 25 doi: 10.1016/j.ejmg.2021.104182. PMID: 33639314
Vetro A, Savasta S, Russo Raucci A, Cerqua C, Sartori G, Limongelli I, Forlino A, Maruelli S, Perucca P, Vergani D, Mazzini G, Mattevi A, Stivala LA, Salviati L, Zuffardi O
Eur J Hum Genet 2017 May;25(5):646-650. Epub 2017 Feb 15 doi: 10.1038/ejhg.2017.5. PMID: 28198391Free PMC Article
Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SR, Goriely A, McGowan SJ, Miller KA, Taylor IB, Logan C; WGS500 Consortium, 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
Am J Hum Genet 2016 Jul 7;99(1):125-38. Epub 2016 Jun 30 doi: 10.1016/j.ajhg.2016.05.019. PMID: 27374770Free PMC Article

Clinical prediction guides

Nielsen-Dandoroff E, Ruegg MSG, Bicknell LS
Eur J Hum Genet 2023 Aug;31(8):859-868. Epub 2023 Apr 14 doi: 10.1038/s41431-023-01359-z. PMID: 37059840Free PMC Article
Vetro A, Savasta S, Russo Raucci A, Cerqua C, Sartori G, Limongelli I, Forlino A, Maruelli S, Perucca P, Vergani D, Mazzini G, Mattevi A, Stivala LA, Salviati L, Zuffardi O
Eur J Hum Genet 2017 May;25(5):646-650. Epub 2017 Feb 15 doi: 10.1038/ejhg.2017.5. PMID: 28198391Free PMC Article
Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SR, Goriely A, McGowan SJ, Miller KA, Taylor IB, Logan C; WGS500 Consortium, 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
Am J Hum Genet 2016 Jul 7;99(1):125-38. Epub 2016 Jun 30 doi: 10.1016/j.ajhg.2016.05.019. PMID: 27374770Free PMC Article
Hossain M, Stillman B
Genes Dev 2012 Aug 15;26(16):1797-810. Epub 2012 Aug 1 doi: 10.1101/gad.197178.112. PMID: 22855792Free PMC Article
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
Eur J Hum Genet 2012 Jun;20(6):598-606. Epub 2012 Feb 15 doi: 10.1038/ejhg.2011.269. PMID: 22333897Free PMC Article

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