Baraitser-Winter cerebrofrontofacial syndrome

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Baraitser-Winter cerebrofrontofacial syndrome

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); see this term) corresponds to the appearance of BWS in elderly patients.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version April 2024

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