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Radiculomegaly

MedGen UID:
1768841
Concept ID:
C5421671
Anatomical Abnormality
Synonyms: Long dental root; Rhizomegaly; Root gigantism
 
HPO: HP:0033189

Definition

Tooth root length more than 2 SD above mean, or subjectively apparently increased tooth root length. [from HPO]

Term Hierarchy

Conditions with this feature

Oculofaciocardiodental syndrome
MedGen UID:
337547
Concept ID:
C1846265
Disease or Syndrome
Oculofaciocardiodental (OFCD) syndrome is a condition that affects the development of the eyes (oculo-), facial features (facio-), heart (cardio-) and teeth (dental). This condition occurs only in females.\n\nThe eye abnormalities associated with OFCD syndrome can affect one or both eyes. Many people with this condition are born with eyeballs that are abnormally small (microphthalmia). Other eye problems can include clouding of the lens (cataract) and a higher risk of glaucoma, an eye disease that increases the pressure in the eye. These abnormalities can lead to vision loss or blindness.\n\nPeople with OFCD syndrome often have a long, narrow face with distinctive facial features, including deep-set eyes and a broad nasal tip that is divided by a cleft. Some affected people have an opening in the roof of the mouth called a cleft palate.\n\nHeart defects are another common feature of OFCD syndrome. Babies with this condition may be born with a hole between two chambers of the heart (an atrial or ventricular septal defect) or a leak in one of the valves that controls blood flow through the heart (mitral valve prolapse).\n\nTeeth with very large roots (radiculomegaly) are characteristic of OFCD syndrome. Additional dental abnormalities can include delayed loss of primary (baby) teeth, missing or abnormally small teeth, misaligned teeth, and defective tooth enamel.

Recent clinical studies

Etiology

Bloch-Zupan A, Rousseaux M, Laugel V, Schmittbuhl M, Mathis R, Desforges E, Koob M, Zaloszyc A, Dollfus H, Laugel V
Orphanet J Rare Dis 2013 Jan 14;8:9. doi: 10.1186/1750-1172-8-9. PMID: 23311583Free PMC Article
Jiang YH, Fang P, Adesina AM, Furman P, Johnston JJ, Biesecker LG, Brown CW
Am J Med Genet A 2009 Jun;149A(6):1249-52. doi: 10.1002/ajmg.a.32863. PMID: 19449433Free PMC Article
Hilton E, Johnston J, Whalen S, Okamoto N, Hatsukawa Y, Nishio J, Kohara H, Hirano Y, Mizuno S, Torii C, Kosaki K, Manouvrier S, Boute O, Perveen R, Law C, Moore A, Fitzpatrick D, Lemke J, Fellmann F, Debray FG, Dastot-Le-Moal F, Gerard M, Martin J, Bitoun P, Goossens M, Verloes A, Schinzel A, Bartholdi D, Bardakjian T, Hay B, Jenny K, Johnston K, Lyons M, Belmont JW, Biesecker LG, Giurgea I, Black G
Eur J Hum Genet 2009 Oct;17(10):1325-35. Epub 2009 Apr 15 doi: 10.1038/ejhg.2009.52. PMID: 19367324Free PMC Article
Kawamoto T, Motohashi N, Ohyama K
Cleft Palate Craniofac J 2004 Jan;41(1):84-94. doi: 10.1597/02-133. PMID: 14697064

Diagnosis

Nguyen TT, Truong ATH, Hoang VA, Van Huynh D, Van Nguyen T, Le CT, Dang DTP, Le MHN
J Med Case Rep 2024 Jan 4;18(1):18. doi: 10.1186/s13256-023-04244-x. PMID: 38178193Free PMC Article
Kato J, Kushima K, Kushima F
Medicine (Baltimore) 2018 Dec;97(49):e13444. doi: 10.1097/MD.0000000000013444. PMID: 30544426Free PMC Article
Smith MH, Cohen DM, Bhattacharyya I, Islam NM, Kashtwari D
Oral Surg Oral Med Oral Pathol Oral Radiol 2018 Oct;126(4):e220-e227. Epub 2018 Feb 28 doi: 10.1016/j.oooo.2018.02.011. PMID: 29574060
Bloch-Zupan A, Rousseaux M, Laugel V, Schmittbuhl M, Mathis R, Desforges E, Koob M, Zaloszyc A, Dollfus H, Laugel V
Orphanet J Rare Dis 2013 Jan 14;8:9. doi: 10.1186/1750-1172-8-9. PMID: 23311583Free PMC Article
Opitz C, Horn D, Lehmann R, Dimitrova T, Fasmers-Henke K
J Orofac Orthop 1998;59(3):178-85. doi: 10.1007/BF01317179. PMID: 9640004

Therapy

Pace R, Giuliani V, Pagavino G
J Endod 2011 Apr;37(4):558-61. doi: 10.1016/j.joen.2010.12.015. PMID: 21419309

Prognosis

Hu Q, Mai J, Xiang Q, Zhou B, Liu S, Wang J
BMC Pediatr 2022 Feb 7;22(1):82. doi: 10.1186/s12887-022-03148-x. PMID: 35130870Free PMC Article
Martinho J, Ferreira H, Paulo S, Paula A, Marto CM, Carrilho E, Marques-Ferreira M
Int J Environ Res Public Health 2019 Mar 14;16(6) doi: 10.3390/ijerph16060928. PMID: 30875852Free PMC Article
Smith MH, Cohen DM, Bhattacharyya I, Islam NM, Kashtwari D
Oral Surg Oral Med Oral Pathol Oral Radiol 2018 Oct;126(4):e220-e227. Epub 2018 Feb 28 doi: 10.1016/j.oooo.2018.02.011. PMID: 29574060
Pace R, Giuliani V, Pagavino G
J Endod 2011 Apr;37(4):558-61. doi: 10.1016/j.joen.2010.12.015. PMID: 21419309
Oberoi S, Winder AE, Johnston J, Vargervik K, Slavotinek AM
Am J Med Genet A 2005 Jul 30;136(3):275-7. doi: 10.1002/ajmg.a.30811. PMID: 15957158

Clinical prediction guides

Nguyen TT, Truong ATH, Hoang VA, Van Huynh D, Van Nguyen T, Le CT, Dang DTP, Le MHN
J Med Case Rep 2024 Jan 4;18(1):18. doi: 10.1186/s13256-023-04244-x. PMID: 38178193Free PMC Article
Kato J, Kushima K, Kushima F
Medicine (Baltimore) 2018 Dec;97(49):e13444. doi: 10.1097/MD.0000000000013444. PMID: 30544426Free PMC Article
Oberoi S, Winder AE, Johnston J, Vargervik K, Slavotinek AM
Am J Med Genet A 2005 Jul 30;136(3):275-7. doi: 10.1002/ajmg.a.30811. PMID: 15957158

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