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Oculootodental syndrome

MedGen UID:
413814
•Concept ID:
C2750325
•
Disease or Syndrome
Synonyms: Oculootodental Syndrome; Otodental Syndrome With Coloboma
SNOMED CT: Oculootodental syndrome (770944002)
 
Monarch Initiative: MONDO:0020494
OMIM®: 166750
Orphanet: ORPHA99806

Definition

A contiguous gene syndrome comprising otodental syndrome (globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities typically including iris and chorioretinal coloboma and sometimes microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOculootodental syndrome

Recent clinical studies

Etiology

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
Prasad MK, Geoffroy V, Vicaire S, Jost B, Dumas M, Le Gras S, Switala M, Gasse B, Laugel-Haushalter V, Paschaki M, Leheup B, Droz D, Dalstein A, Loing A, Grollemund B, Muller-Bolla M, Lopez-Cazaux S, Minoux M, Jung S, Obry F, Vogt V, Davideau JL, Davit-Beal T, Kaiser AS, Moog U, Richard B, Morrier JJ, Duprez JP, Odent S, Bailleul-Forestier I, Rousset MM, Merametdijan L, Toutain A, Joseph C, Giuliano F, Dahlet JC, Courval A, El Alloussi M, Laouina S, Soskin S, Guffon N, Dieux A, Doray B, Feierabend S, Ginglinger E, Fournier B, de la Dure Molla M, Alembik Y, Tardieu C, Clauss F, Berdal A, Stoetzel C, Manière MC, Dollfus H, Bloch-Zupan A
J Med Genet 2016 Feb;53(2):98-110. Epub 2015 Oct 26 doi: 10.1136/jmedgenet-2015-103302. PMID: 26502894Free PMC Article

Diagnosis

Otodental syndrome: Case report and differential diagnosis with Treacher Collins syndrome.
Paglia M, Giani G, Pisoni L, Paglia L
Eur J Paediatr Dent 2022 Mar;23(1):66-58. doi: 10.23804/ejpd.2022.23.01.12. PMID: 35274545
Three years of follow-up of otodental syndrome in 3-year-old Chinese boy: a rare case report.
Su JM, Zeng SJ, Ye XW, Wu ZF, Huang XW, Pathak JL
BMC Oral Health 2019 Jul 25;19(1):164. doi: 10.1186/s12903-019-0860-z. PMID: 31345197Free PMC Article
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
Prasad MK, Geoffroy V, Vicaire S, Jost B, Dumas M, Le Gras S, Switala M, Gasse B, Laugel-Haushalter V, Paschaki M, Leheup B, Droz D, Dalstein A, Loing A, Grollemund B, Muller-Bolla M, Lopez-Cazaux S, Minoux M, Jung S, Obry F, Vogt V, Davideau JL, Davit-Beal T, Kaiser AS, Moog U, Richard B, Morrier JJ, Duprez JP, Odent S, Bailleul-Forestier I, Rousset MM, Merametdijan L, Toutain A, Joseph C, Giuliano F, Dahlet JC, Courval A, El Alloussi M, Laouina S, Soskin S, Guffon N, Dieux A, Doray B, Feierabend S, Ginglinger E, Fournier B, de la Dure Molla M, Alembik Y, Tardieu C, Clauss F, Berdal A, Stoetzel C, Manière MC, Dollfus H, Bloch-Zupan A
J Med Genet 2016 Feb;53(2):98-110. Epub 2015 Oct 26 doi: 10.1136/jmedgenet-2015-103302. PMID: 26502894Free PMC Article
Otodental syndrome.
Bloch-Zupan A, Goodman JR
Orphanet J Rare Dis 2006 Mar 21;1:5. doi: 10.1186/1750-1172-1-5. PMID: 16722606Free PMC Article
Otodental syndrome.
Mesaros AJ Jr, Basden JW
Gen Dent 1996 Sep-Oct;44(5):427-9. PMID: 9171041

Clinical prediction guides

Clinical, pathological, and genetic evaluations of Chinese patient with otodental syndrome and multiple complex odontoma: Case report.
Liu A, Wu M, Guo X, Guo H, Zhou Z, Wei K, Xuan K
Medicine (Baltimore) 2017 Feb;96(5):e6014. doi: 10.1097/MD.0000000000006014. PMID: 28151902Free PMC Article
Otodental dysplasia: a five year study.
Cook RA, Cox JR, Jorgenson RJ
Ear Hear 1981 Mar-Apr;2(2):90-4. doi: 10.1097/00003446-198103000-00007. PMID: 7227680

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