Details of Disease | DrugMAP

General Information of Disease (ID: DISN13U9)

Disease Name	Baraitser-Winter cerebrofrontofacial syndrome
Synonyms	iris coloboma with ptosis hypertelorism and mental retardation; trigonocephaly ptosis intellectual disability; cerebro-frontofacial syndrome, type 3; Fryns-Aftimos syndrome; BRWS; trigonocephaly ptosis coloboma; trigonocephaly ptosis mental retardation; iris coloboma with ptosis hypertelorism and intellectual disability; Baraitser-winter syndrome
Definition	Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA)) corresponds to the appearance of BWS in elderly patients.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISBCZL7: Lissencephaly spectrum disorders DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISN13U9: Baraitser-Winter cerebrofrontofacial syndrome
Disease Identifiers	MONDO ID MONDO_0017579 MESH ID C565258 UMLS CUI C1853623 MedGen ID 340016 Orphanet ID 2995

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ACTG1	TTGAZF9	Supportive	Autosomal dominant	[1]
ACTG1	TTGAZF9	Strong	Biomarker	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACTG1	OTH4V7VQ	Supportive	Autosomal dominant	[1]
ACTB	OT1MCP2F	Definitive	Autosomal dominant	[3]
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References

1	De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet. 2012 Feb 26;44(4):440-4, S1-2. doi: 10.1038/ng.1091.
2	Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome.Am J Med Genet A. 2017 Feb;173(2):546-549. doi: 10.1002/ajmg.a.38057. Epub 2016 Nov 21.
3	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.