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Baraitser-Winter Cerebrofrontofacial Syndrome.

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GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2015 Nov 19.

Author information

1
Denis Diderot Medical School, Sorbonne Paris Cité University, Department of Genetics, APHP - Hôpital Robert Debré, Paris, France
2
Department of Genetics, APHP - Hôpital Robert Debré, Paris, France
3
Institute of Medical Genetics, University Hospital of Wales, Cardiff, United Kingdom
4
Institut für Klinische Genetik, Universitätsklinikum Carl Gustav Carus, Dresden, Germany

Excerpt

CLINICAL CHARACTERISTICS:

Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome is a multiple congenital anomaly syndrome characterized by typical craniofacial features and intellectual disability (ID) that ranges from mild (usually in those with normal brain structure) to profound (typically in those with a neuronal migration defect). Many (but not all) affected individuals have iris or retinal coloboma, sensorineural deafness, and muscle wasting resulting in a peculiar stance with kyphosis, anteverted shoulders, and slightly flexed elbows and knees. Seizures, congenital heart defects, and renal malformations also are common.

DIAGNOSIS/TESTING:

The diagnosis of BWCFF syndrome is established in a proband with a compatible clinical phenotype and a heterozygous gain-of-function variant in either ACTB or ACTG1.

MANAGEMENT:

Treatment of manifestations: Treatment is symptomatic. Developmental delay requires specific support (speech therapy, physical therapy) adapted to the severity of the handicap. Surveillance: Routine follow up recommended for neurodevelopmental assessment in all; follow up as needed for those with coloboma (ophthalmologic evaluation), hearing loss (audiologic evaluation), cardiac defects, and renal tract anomalies.

GENETIC COUNSELING:

BWCFF syndrome is inherited in an autosomal dominant manner. To date, all affected individuals have had a de novo pathogenic variant. The risk to sibs is low but presumed to be greater than that of the general population because of the possibility of germline mosaicism. If the ACTB or ACTG1 pathogenic variant is known, prenatal testing for subsequent pregnancies of the parents of an affected child is possible.

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