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Oral-facial-digital syndrome, type 1

MedGen UID:
419078
•Concept ID:
C2931426
•
Disease or Syndrome
Synonyms: Orofaciodigital syndrome type1; Papillon-League-Psaume syndrome

Professional guidelines

PubMed

Meckel syndrome: genetics, perinatal findings, and differential diagnosis.
Chen CP
Taiwan J Obstet Gynecol 2007 Mar;46(1):9-14. doi: 10.1016/S1028-4559(08)60100-X. PMID: 17389183

Recent clinical studies

Etiology

Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms.
Bukowy-Bieryllo Z, Rabiasz A, Dabrowski M, Pogorzelski A, Wojda A, Dmenska H, Grzela K, Sroczynski J, Witt M, Zietkiewicz E
J Med Genet 2019 Nov;56(11):769-777. Epub 2019 Jul 31 doi: 10.1136/jmedgenet-2018-105918. PMID: 31366608
The molecular basis of oral-facial-digital syndrome, type 1.
Macca M, Franco B
Am J Med Genet C Semin Med Genet 2009 Nov 15;151C(4):318-25. doi: 10.1002/ajmg.c.30224. PMID: 19876934
Meckel syndrome: genetics, perinatal findings, and differential diagnosis.
Chen CP
Taiwan J Obstet Gynecol 2007 Mar;46(1):9-14. doi: 10.1016/S1028-4559(08)60100-X. PMID: 17389183

Diagnosis

Oral-Facial-Digital Syndrome Type 1: Further Clinical and Molecular Delineation in 2 New Families.
Faily S, Perveen R, Chandler K, Clayton-Smith J
Cleft Palate Craniofac J 2020 May;57(5):606-615. Epub 2020 Feb 17 doi: 10.1177/1055665620902880. PMID: 32064904
Oral-facial-digital syndrome type 1 with hypothalamic hamartoma and Dandy-Walker malformation.
Azukizawa T, Yamamoto M, Narumiya S, Takano T
Pediatr Neurol 2013 Apr;48(4):329-32. doi: 10.1016/j.pediatrneurol.2012.12.016. PMID: 23498571
Oral-facial-digital syndrome type 1: oral features in 12 patients submitted to clinical and radiographic examination.
Tagliani MM, Gomide MR, Carrara CF
Cleft Palate Craniofac J 2010 Mar;47(2):162-6. doi: 10.1597/08-200_1. PMID: 20210637
The molecular basis of oral-facial-digital syndrome, type 1.
Macca M, Franco B
Am J Med Genet C Semin Med Genet 2009 Nov 15;151C(4):318-25. doi: 10.1002/ajmg.c.30224. PMID: 19876934
Meckel syndrome: genetics, perinatal findings, and differential diagnosis.
Chen CP
Taiwan J Obstet Gynecol 2007 Mar;46(1):9-14. doi: 10.1016/S1028-4559(08)60100-X. PMID: 17389183

Prognosis

Imaging Similarities Between Oral-Facial-Digital Syndrome Type 1 and Aicardi Syndrome: Prenatal and Postnatal Magnetic Resonance Imaging (MRI) Findings in 4 Patients.
Venkatesan C, Countee E, Wong B, Spaeth C, Kline-Fath BM, Nagaraj UD
J Child Neurol 2023 Feb;38(1-2):31-37. Epub 2022 Dec 25 doi: 10.1177/08830738221147372. PMID: 36567511
Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum.
Bouman A, Alders M, Oostra RJ, van Leeuwen E, Thuijs N, van der Kevie-Kersemaekers AM, van Maarle M
Am J Med Genet A 2017 May;173(5):1383-1389. Epub 2017 Apr 3 doi: 10.1002/ajmg.a.38179. PMID: 28371265Free PMC Article
Clinical manifestations of hereditary cystic kidney disease.
Rohatgi R
Front Biosci 2008 May 1;13:4175-97. doi: 10.2741/2999. PMID: 18508505
OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells.
Romio L, Wright V, Price K, Winyard PJ, Donnai D, Porteous ME, Franco B, Giorgio G, Malcolm S, Woolf AS, Feather SA
J Am Soc Nephrol 2003 Mar;14(3):680-9. doi: 10.1097/01.asn.0000054497.48394.d2. PMID: 12595504
The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3.
Feather SA, Woolf AS, Donnai D, Malcolm S, Winter RM
Hum Mol Genet 1997 Jul;6(7):1163-7. doi: 10.1093/hmg/6.7.1163. PMID: 9215688

Clinical prediction guides

Extraciliary OFD1 Is Involved in Melanocyte Survival through Cell Adhesion to ECM via Paxillin.
Kim NH, Lee CH, Lee AY
Int J Mol Sci 2023 Dec 15;24(24) doi: 10.3390/ijms242417528. PMID: 38139355Free PMC Article
Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum.
Bouman A, Alders M, Oostra RJ, van Leeuwen E, Thuijs N, van der Kevie-Kersemaekers AM, van Maarle M
Am J Med Genet A 2017 May;173(5):1383-1389. Epub 2017 Apr 3 doi: 10.1002/ajmg.a.38179. PMID: 28371265Free PMC Article
Oral-facial-digital syndrome type 1: oral features in 12 patients submitted to clinical and radiographic examination.
Tagliani MM, Gomide MR, Carrara CF
Cleft Palate Craniofac J 2010 Mar;47(2):162-6. doi: 10.1597/08-200_1. PMID: 20210637
X-chromosome inactivation: role in skin disease expression.
Happle R
Acta Paediatr Suppl 2006 Apr;95(451):16-23. doi: 10.1080/08035320600618775. PMID: 16720460
The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3.
Feather SA, Woolf AS, Donnai D, Malcolm S, Winter RM
Hum Mol Genet 1997 Jul;6(7):1163-7. doi: 10.1093/hmg/6.7.1163. PMID: 9215688

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