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Baraitser-Winter syndrome(COFLS)

MedGen UID:
340016
Concept ID:
C1853623
Disease or Syndrome
Synonyms: Baraitser-Winter cerebrofrontofacial syndrome; CEREBROOCULOFACIAL LYMPHATIC SYNDROME; COFL SYNDROME; Fryns-Aftimos syndrome; Fryns-Aftimos Syndrome (Pachygyria, Mental Retardation, Epilepsy, and Characteristic Facies)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Related genes: ACTG1, ACTB
 
Monarch Initiative: MONDO:0017579
OMIM®: 243310
OMIM® Phenotypic series: PS243310
Orphanet: ORPHA2995

Definition

Baraitser-Winter syndrome (BRWS) is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies (summary by Verloes et al., 2015). Di Donato et al. (2014) and Verloes et al. (2015) suggested that BRWS, Fryns-Aftimos syndrome, and cerebrofrontofacial syndrome represent the same clinical entity. The phenotype is highly variable (summary by Cuvertino et al., 2017). Genetic Heterogeneity of Baraitser-Winter Syndrome Baraitser-Winter syndrome-2 (BRWS2; 614583) is caused by heterozygous mutation in the ACTG1 gene (102560) on chromosome 17q25. [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Drury S, Williams H, Trump N, Boustred C; GOSGene, Lench N, Scott RH, Chitty LS
Prenat Diagn 2015 Oct;35(10):1010-7. Epub 2015 Sep 11 doi: 10.1002/pd.4675. PMID: 26275891

Recent clinical studies

Etiology

Sezer A, Kayhan G, Percin FE
Eur J Med Genet 2023 Sep;66(9):104809. Epub 2023 Jul 19 doi: 10.1016/j.ejmg.2023.104809. PMID: 37474017
Weitensteiner V, Zhang R, Bungenberg J, Marks M, Gehlen J, Ralser DJ, Hilger AC, Sharma A, Schumacher J, Gembruch U, Merz WM, Becker A, Altmüller J, Thiele H, Herrmann BG, Odermatt B, Ludwig M, Reutter H
Birth Defects Res 2018 Apr 17;110(7):587-597. Epub 2018 Feb 1 doi: 10.1002/bdr2.1200. PMID: 29388391
Drury S, Williams H, Trump N, Boustred C; GOSGene, Lench N, Scott RH, Chitty LS
Prenat Diagn 2015 Oct;35(10):1010-7. Epub 2015 Sep 11 doi: 10.1002/pd.4675. PMID: 26275891

Diagnosis

Graziani L, Cinnirella G, Ferradini V, Conte C, Bascio FL, Bengala M, Sangiuolo F, Novelli G
Am J Med Genet A 2023 Jun;191(6):1565-1569. Epub 2023 Feb 21 doi: 10.1002/ajmg.a.63157. PMID: 36810952
Diab E, Morin G, Hery L, Barbier V, Cottin G, Jobic F, Tir M
Eur J Med Genet 2022 Sep;65(9):104559. Epub 2022 Jul 6 doi: 10.1016/j.ejmg.2022.104559. PMID: 35803559
Papamichail M, Manolakos E, Papoulidis I, Siomou E, Eleftheriades A, Marinakis I, Tzanakis K, Sartsidis A, Vlahos NF, Eleftheriades M
Eur J Med Genet 2021 Nov;64(11):104318. Epub 2021 Aug 24 doi: 10.1016/j.ejmg.2021.104318. PMID: 34450357
Zhang K, Cox E, Strom S, Xu ZL, Disilvestro A, Usrey K
Am J Med Genet A 2020 Sep;182(9):2124-2128. Epub 2020 Jun 26 doi: 10.1002/ajmg.a.61725. PMID: 32588558
Yates TM, Turner CL, Firth HV, Berg J, Pilz DT
Clin Genet 2017 Jul;92(1):3-9. Epub 2016 Nov 30 doi: 10.1111/cge.12864. PMID: 27625340

Prognosis

Sezer A, Kayhan G, Percin FE
Eur J Med Genet 2023 Sep;66(9):104809. Epub 2023 Jul 19 doi: 10.1016/j.ejmg.2023.104809. PMID: 37474017
Eggink H, van Egmond ME, Verschuuren-Bemelmans CC, Schönherr MC, de Koning TJ, Oterdoom DL, van Dijk JM, Tijssen MA
Mov Disord 2017 Jan;32(1):162-165. Epub 2016 Nov 8 doi: 10.1002/mds.26842. PMID: 27862284
Eker HK, Derinkuyu BE, Ünal S, Masliah-Planchon J, Drunat S, Verloes A
Eur J Med Genet 2014 Jan;57(1):32-6. Epub 2013 Nov 7 doi: 10.1016/j.ejmg.2013.10.005. PMID: 24211661

Clinical prediction guides

Bhoj EJ, Haye D, Toutain A, Bonneau D, Nielsen IK, Lund IB, Bogaard P, Leenskjold S, Karaer K, Wild KT, Grand KL, Astiazaran MC, Gonzalez-Nieto LA, Carvalho A, Lehalle D, Amudhavalli SM, Repnikova E, Saunders C, Thiffault I, Saadi I, Li D, Hakonarson H, Vial Y, Zackai E, Callier P, Drunat S, Verloes A
Eur J Med Genet 2019 Dec;62(12):103588. Epub 2018 Nov 22 doi: 10.1016/j.ejmg.2018.11.022. PMID: 30472488Free PMC Article
Shimojima K, Narai S, Togawa M, Doumoto T, Sangu N, Vanakker OM, de Paepe A, Edwards M, Whitehall J, Brescianini S, Petit F, Andrieux J, Yamamoto T
Eur J Med Genet 2016 Oct;59(10):502-6. Epub 2016 Sep 12 doi: 10.1016/j.ejmg.2016.09.008. PMID: 27633570

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