Orofaciodigital syndrome type 12

MedGen UID:: 420948
•Concept ID:: C2932679
•: Disease or Syndrome

Synonyms:	Moran-Barroso Syndrome; OFDS 12; Oral facial digital syndrome type 12; Orofaciodigital syndrome XII

Monarch Initiative:	MONDO:0015421
Orphanet:	ORPHA141327

Definition

Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated. [from ORDO]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVOrofaciodigital syndrome type 12

Abnormality of prenatal development or birth
- Fetal anomaly
  - Congenital Systemic Disorder
    - Congenital anomaly of musculoskeletal system
      - Craniofacial Abnormalities
        Orofaciodigital syndrome
        Orofaciodigital syndrome type 12

Follow this link to review classifications for Orofaciodigital syndrome type 12 in Orphanet.

Recent clinical studies

Etiology

INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.

Mascibroda LG, Shboul M, Elrod ND, Colleaux L, Hamamy H, Huang KL, Peart N, Singh MK, Lee H, Merriman B, Jodoin JN, Sitaram P, Lee LA, Fathalla R, Al-Rawashdeh B, Ababneh O, El-Khateeb M, Escande-Beillard N, Nelson SF, Wu Y, Tong L, Kenney LJ, Roy S, Russell WK, Amiel J, Reversade B, Wagner EJ
Nat Commun 2022 Oct 13;13(1):6054. doi: 10.1038/s41467-022-33547-8. PMID: 36229431 Free PMC Article

Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome).

Monroe GR, Kappen IF, Stokman MF, Terhal PA, van den Boogaard MH, Savelberg SM, van der Veken LT, van Es RJ, Lens SM, Hengeveld RC, Creton MA, Janssen NG, Mink van der Molen AB, Ebbeling MB, Giles RH, Knoers NV, van Haaften G
Eur J Hum Genet 2016 Dec;24(12):1752-1760. Epub 2016 Aug 17 doi: 10.1038/ejhg.2016.103. PMID: 27530628 Free PMC Article

Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.

Thevenon J, Duplomb L, Phadke S, Eguether T, Saunier A, Avila M, Carmignac V, Bruel AL, St-Onge J, Duffourd Y, Pazour GJ, Franco B, Attie-Bitach T, Masurel-Paulet A, Rivière JB, Cormier-Daire V, Philippe C, Faivre L, Thauvin-Robinet C
Clin Genet 2016 Dec;90(6):509-517. Epub 2016 Apr 29 doi: 10.1111/cge.12785. PMID: 27060890 Free PMC Article

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.

Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B; Oral-Facial-Digital Type I (OFDI) Collaborative Group
Hum Mutat 2008 Oct;29(10):1237-46. doi: 10.1002/humu.20792. PMID: 18546297

See all (4)

Diagnosis

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

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

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.

Darmency-Stamboul V, Burglen L, Lopez E, Mejean N, Dean J, Franco B, Rodriguez D, Lacombe D, Desguerres I, Cormier-Daire V, Doray B, Pasquier L, Gonzales M, Pastore M, Crenshaw ML, Huet F, Gigot N, Aral B, Callier P, Faivre L, Attié-Bitach T, Thauvin-Robinet C
Eur J Med Genet 2013 Jun;56(6):301-8. Epub 2013 Mar 21 doi: 10.1016/j.ejmg.2013.03.004. PMID: 23523602

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

Buccal anomalies, cephalometric analysis and genetic study of two sisters with orofaciodigital syndrome type I.

Romero M, Franco B, del Pozo JS, Romance A
Cleft Palate Craniofac J 2007 Nov;44(6):660-6. doi: 10.1597/06-225.1. PMID: 18177199

See all (9)

Prognosis

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

Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants.

Boczek NJ, Hopp K, Benoit L, Kraft D, Cousin MA, Blackburn PR, Madsen CD, Oliver GR, Nair AA, Na J, Bianchi DW, Beek G, Harris PC, Pichurin P, Klee EW
Eur J Hum Genet 2018 Dec;26(12):1797-1809. Epub 2018 Aug 10 doi: 10.1038/s41431-018-0222-3. PMID: 30097616 Free PMC Article

See all (2)