Table 6.

Treatment of Manifestations in Individuals with Baraitser-Winter Cerebrofrontofacial Syndrome

Manifestation/ConcernTreatmentConsiderations/Other
Developmental delay /
Intellectual disability 		See Developmental Delay / Intellectual Disability Management Issues.
Muscle wasting & joint limitation PT may be helpful to slow progressive joint ankyloses & scoliosis.Orthopedic monitoring during growth spurts & adolescence for early recognition & mgmt of scoliosis
Epilepsy Standardized treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • Education of parents/caregivers 1
Abnormal vision &/or
strabismus 		Standard treatment(s) per ophthalmologist if coloboma &/or micropthalmia is present & → poor visionPtosis may require surgery.
Hearing Hearing aids may be helpful; per otolaryngologist.Community hearing services through early intervention or school district
GI dysfunction Osmotic laxatives were reported effective in majority of persons w/constipation.GI eval is necessary to monitor long-term medication.

ASM = anti-seizure medication; GI = gastrointestinal; PT = physical therapy

1.

Education of parents/caregivers regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

From: Baraitser-Winter Cerebrofrontofacial Syndrome

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.