GTR Home > Conditions/Phenotypes > Baraitser-Winter syndrome 1

Summary

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. [from GeneReviews]

Available tests

16 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Associated cytogenetic location

  • Location: 7p22.1

Clinical features

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