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Flat glenoid fossa

MedGen UID:
340804
Concept ID:
C1855177
Finding
HPO: HP:0000911

Definition

Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. [from HPO]

Conditions with this feature

Dyggve-Melchior-Clausen syndrome
MedGen UID:
120527
Concept ID:
C0265286
Disease or Syndrome
Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests (summary by El Ghouzzi et al., 2003).
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
MedGen UID:
344437
Concept ID:
C1855175
Disease or Syndrome
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.
Meier-Gorlin syndrome 1
MedGen UID:
1641240
Concept ID:
C4552001
Disease or Syndrome
The Meier-Gorlin syndrome is a rare disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae (summary by Shalev and Hall, 2003). While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal (Bicknell et al., 2011). Genetic Heterogeneity of Meier-Gorlin Syndrome Most forms of Meier-Gorlin syndrome are autosomal recessive disorders, including Meier-Gorlin syndrome-1; Meier-Gorlin syndrome-2 (613800), caused by mutation in the ORC4 gene (603056) on chromosome 2q23; Meier-Gorlin syndrome-3 (613803), caused by mutation in the ORC6 gene (607213) on chromosome 16q11; Meier-Gorlin syndrome-4 (613804), caused by mutation in the CDT1 gene (605525) on chromosome 16q24; Meier-Gorlin syndrome-5 (613805), caused by mutation in the CDC6 gene (602627) on chromosome 17q21; Meier-Gorlin syndrome-7 (617063), caused by mutation in the CDC45L gene (603465) on chromosome 22q11; and Meier-Gorlin syndrome-8 (617564), caused by mutation in the MCM5 gene (602696) on chromosome 22q12. An autosomal dominant form of the disorder, Meier-Gorlin syndrome-6 (616835), is caused by mutation in the GMNN gene (602842) on chromosome 6p22.

Recent clinical studies

Etiology

Zhai X, Huang D, Hu Y, Li X, Wang J, Ma J, Li H, Hu M, Liu H, Jiang H
Clin Oral Investig 2023 May;27(5):2267-2276. Epub 2023 Apr 5 doi: 10.1007/s00784-023-04961-z. PMID: 37017756
Kany J, Codanda B, Croutzet P, Guinand R
Orthop Traumatol Surg Res 2017 May;103(3):441-446. Epub 2017 Mar 6 doi: 10.1016/j.otsr.2016.11.023. PMID: 28274881
Bai G, Yang C, He D, Zhang X, Abdelrehem A
J Craniomaxillofac Surg 2015 Oct;43(8):1392-7. Epub 2015 Jul 11 doi: 10.1016/j.jcms.2015.06.048. PMID: 26297423
Gauger EM, Cole PA
Clin Orthop Relat Res 2011 Dec;469(12):3390-9. doi: 10.1007/s11999-011-1970-3. PMID: 21761253Free PMC Article
Arici S, Akan H, Yakubov K, Arici N
Am J Orthod Dentofacial Orthop 2008 Jun;133(6):809-14. doi: 10.1016/j.ajodo.2006.07.035. PMID: 18538243

Diagnosis

Fagundes RJ, Felipe BC, Couto MK, Silva MC, Iwaki LCV
Oral Radiol 2024 Jul;40(3):445-453. Epub 2024 Apr 8 doi: 10.1007/s11282-024-00749-3. PMID: 38587690
Song Y, Liu J, Cao L, Yu BH, Sun T, Shi L, Shi YH, Zhong ZW, Wu WJ, Gao BL
Curr Med Imaging 2022;18(6):674-683. doi: 10.2174/1573405617666210901144924. PMID: 34488589
James J, Huffman KR, Werner FW, Sutton LG, Nanavati VN
J Shoulder Elbow Surg 2012 Jul;21(7):917-24. Epub 2011 Jul 20 doi: 10.1016/j.jse.2011.04.017. PMID: 21778072
Coskun N, Karaali K, Cevikol C, Demirel BM, Sindel M
Saudi Med J 2006 Sep;27(9):1320-5. PMID: 16951766
Prescher A
Eur J Radiol 2000 Aug;35(2):88-102. doi: 10.1016/s0720-048x(00)00225-4. PMID: 10963915

Therapy

Arici S, Akan H, Yakubov K, Arici N
Am J Orthod Dentofacial Orthop 2008 Jun;133(6):809-14. doi: 10.1016/j.ajodo.2006.07.035. PMID: 18538243
Coskun N, Karaali K, Cevikol C, Demirel BM, Sindel M
Saudi Med J 2006 Sep;27(9):1320-5. PMID: 16951766

Prognosis

Bai G, Yang C, He D, Zhang X, Abdelrehem A
J Craniomaxillofac Surg 2015 Oct;43(8):1392-7. Epub 2015 Jul 11 doi: 10.1016/j.jcms.2015.06.048. PMID: 26297423

Clinical prediction guides

Gauger EM, Cole PA
Clin Orthop Relat Res 2011 Dec;469(12):3390-9. doi: 10.1007/s11999-011-1970-3. PMID: 21761253Free PMC Article
Prescher A
Eur J Radiol 2000 Aug;35(2):88-102. doi: 10.1016/s0720-048x(00)00225-4. PMID: 10963915
Radlanski RJ, Lieck S, Bontschev NE
Eur J Oral Sci 1999 Feb;107(1):25-34. doi: 10.1046/j.0909-8836.1999.eos107106.x. PMID: 10102748
Cohen MM Jr, Kreiborg S
Am J Med Genet 1993 Oct 1;47(5):624-32. doi: 10.1002/ajmg.1320470509. PMID: 8266987
Pirttiniemi P, Kantomaa T, Rönning O
Acta Odontol Scand 1990 Dec;48(6):359-64. doi: 10.3109/00016359009029066. PMID: 2288207

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