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Odontochondrodysplasia

MedGen UID:
411198
Concept ID:
C2745953
Disease or Syndrome
Synonyms: Goldblatt syndrome; Spondylometaphyseal dysplasia with dentinogenesis imperfecta
SNOMED CT: Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (717823001); Goldblatt chondrodysplasia (717823001); Goldblatt syndrome (717823001); Odontochondrodysplasia (717823001)
 
Related genes: MIA3, TRIP11
 
Monarch Initiative: MONDO:0031169
OMIM®: 184260
OMIM® Phenotypic series: PS184260

Definition

Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta. To date, 11 patients have been reported. Chondrodysplasia has characteristics of mesomelic limb shortening, joint laxity, platyspondyly with coronal clefts, brachydactyly and coxa valga. The affected patients have no intellectual deficit. The condition is most probably hereditary, transmitted as an autosomal recessive trait. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Zaffanello M, Piacentini G, Sacchetto L, Pietrobelli A, Gasperi E, Barillari M, Cardobi N, Nosetti L, Ramaroli D, Antoniazzi F
Med Princ Pract 2018;27(5):451-458. Epub 2018 Jun 21 doi: 10.1159/000491391. PMID: 29929197Free PMC Article
Unger S, Antoniazzi F, Brugnara M, Alanay Y, Caglayan A, Lachlan K, Ikegawa S, Nishimura G, Zabel B, Spranger J, Superti-Furga A
Am J Med Genet A 2008 Mar 15;146A(6):770-8. doi: 10.1002/ajmg.a.32214. PMID: 18241073

Diagnosis

Su T, Zhu Y, Wang X, Zhu Q, Duan X
Oral Dis 2023 Sep;29(6):2376-2393. Epub 2023 Apr 24 doi: 10.1111/odi.14589. PMID: 37094075
Zhang X, Ren Y, Song R, Wang L, Xu H, Xie X, Zhou H, Sun P, Zhang M, Zhao Q, You Y, Gao Z, Meng Y, Lu Y
Prenat Diagn 2021 Oct;41(11):1401-1413. Epub 2021 Jun 12 doi: 10.1002/pd.5974. PMID: 34091931
Unger S, Antoniazzi F, Brugnara M, Alanay Y, Caglayan A, Lachlan K, Ikegawa S, Nishimura G, Zabel B, Spranger J, Superti-Furga A
Am J Med Genet A 2008 Mar 15;146A(6):770-8. doi: 10.1002/ajmg.a.32214. PMID: 18241073

Prognosis

Medina CTN, Sandoval R, Oliveira G, da Costa Silveira K, Cavalcanti DP, Pogue R
Am J Med Genet A 2020 Apr;182(4):681-688. Epub 2020 Jan 5 doi: 10.1002/ajmg.a.61460. PMID: 31903676

Clinical prediction guides

Del Pino M, Sanchez-Soler MJ, Parrón-Pajares M, Aza-Carmona M, Heath KE, Fano V
Eur J Med Genet 2021 May;64(5):104198. Epub 2021 Mar 18 doi: 10.1016/j.ejmg.2021.104198. PMID: 33746040
Zaffanello M, Piacentini G, Sacchetto L, Pietrobelli A, Gasperi E, Barillari M, Cardobi N, Nosetti L, Ramaroli D, Antoniazzi F
Med Princ Pract 2018;27(5):451-458. Epub 2018 Jun 21 doi: 10.1159/000491391. PMID: 29929197Free PMC Article

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