Orofaciodigital syndrome 20

MedGen UID:: 1054690
•Concept ID:: CN376838
•: Disease or Syndrome

Synonym:	Orofaciodigital syndrome XX

Gene (location): Gene(s) directly associated with this condition or phenotype.	RAB34 (17q11.2)

Monarch Initiative:	MONDO:0958230
OMIM®:	620718

Definition

Orofaciodigital syndrome-20 (OFD20) is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones (Bruel et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of OFD, see OFD1 (311200). [from OMIM]

Professional guidelines

PubMed

First-trimester prenatal diagnosis of Ellis-van Creveld syndrome.

Chen CP, Chen CY, Chern SR, Su JW, Wang W
Taiwan J Obstet Gynecol 2012 Dec;51(4):643-8. doi: 10.1016/j.tjog.2012.10.001. PMID: 23276573

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Recent clinical studies

Etiology

Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.

Bruel AL, Ganga AK, Nosková L, Valenzuela I, Martinovic J, Duffourd Y, Zikánová M, Majer F, Kmoch S, Mohler M, Sun J, Sweeney LK, Martínez-Gil N, Thauvin-Robinet C, Breslow DK
Hum Mol Genet 2023 Sep 5;32(18):2822-2831. doi: 10.1093/hmg/ddad109. PMID: 37384395 Free PMC Article

Bruel AL, Levy J, Elenga N, Defo A, Favre A, Lucron H, Capri Y, Perrin L, Passemard S, Vial Y, Tabet AC, Faivre L, Thauvin-Robinet C, Verloes A
Clin Genet 2018 Jun;93(6):1205-1209. Epub 2018 Apr 6 doi: 10.1111/cge.13238. PMID: 29451301

Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review.

Zhang K, Meng C, Ma J, Gao M, Lv Y, Liu Y, Gai Z
Clin Dysmorphol 2017 Jul;26(3):135-141. doi: 10.1097/MCD.0000000000000183. PMID: 28505061

Joubert Syndrome and related disorders.

Brancati F, Dallapiccola B, Valente EM
Orphanet J Rare Dis 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. PMID: 20615230 Free PMC Article

Atrioventricular canal defect without Down syndrome: a heterogeneous malformation.

Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B
Am J Med Genet 1999 Jul 16;85(2):140-6. PMID: 10406667

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Diagnosis

Yakar O, Tatar A
Am J Med Genet A 2022 Feb;188(2):590-594. Epub 2021 Oct 8 doi: 10.1002/ajmg.a.62527. PMID: 34623732

Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family.

Siegert S, Mindler GT, Brücke C, Kranzl A, Patsch J, Ritter M, Janecke AR, Vodopiutz J
Genes (Basel) 2021 Oct 20;12(11) doi: 10.3390/genes12111648. PMID: 34828254 Free PMC Article

An Orofaciodigital Syndrome 1 Patient and Her Mother Carry the Same OFD1 Mutation but Have Different X Chromosome Inactivation Patterns.

Iijima T, Hayami N, Takaichi K, Morisada N, Nozu K, Iijima K, Sawa N, Hoshino J, Ubara Y
Intern Med 2019 Oct 15;58(20):2989-2992. Epub 2019 Jun 27 doi: 10.2169/internalmedicine.2571-18. PMID: 31243241 Free PMC Article

First-trimester prenatal diagnosis of Ellis-van Creveld syndrome.

Chen CP, Chen CY, Chern SR, Su JW, Wang W
Taiwan J Obstet Gynecol 2012 Dec;51(4):643-8. doi: 10.1016/j.tjog.2012.10.001. PMID: 23276573

Joubert Syndrome and related disorders.

Brancati F, Dallapiccola B, Valente EM
Orphanet J Rare Dis 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. PMID: 20615230 Free PMC Article

See all (13)