Baraitser-Winter syndrome - MedlinePlus
Baraitser-Winter syndrome is a rare condition. Fewer than 50 cases have been reported in the medical literature. Baraitser-Winter syndrome can result from mutations in either the gene. These genes provide instructions for making proteins called beta …
Baraitser-Winter cerebrofrontofacial syndrome | About the …
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 ...
Baraitser-Winter Cerebrofrontofacial Syndrome
2015年11月19日 · Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome is a multiple congenital anomaly syndrome characterized by typical craniofacial features and intellectual disability.
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 ...
What is BWCFF syndrome? Baraitser-Winter Cerebrofrontofacial syndrome (BWCFF) is a genetic condition, caused by changes in the ACTB and ACTG1 genes that cause production of proteins with altered function. It is associated with distinct face and eye anomalies, intellectual disability and abnormal development of the grey matter of the brain.
Fryns-Aftimos syndrome - Wikipedia
Fryns-Aftimos syndrome (also known as Baraitser-Winter syndrome 1, or BWS1) is a rare chromosomal condition and is associated with pachygyria, severe mental retardation, epilepsy and characteristic facial features.
Baraitser-Winter cerebrofrontofacial syndrome - Orphanet
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 ...
Baraitser-Winter syndrome - NIH Genetic Testing Registry (GTR)
Baraitser-Winter syndrome (BRWS) is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness ...
Baraitser–Winter cerebrofrontofacial syndrome (BWCFF) (BRWS; MIM #243310, 614583) is a rare developmental disorder affecting multiple organ systems. It is characterised by intellectual disability (mild to severe) and distinctive facial appearance (metopic ridging/trigonocephaly, bilateral ptosis, hypertelorism).
Baraitser-Winter cerebrofrontofacial syndrome - PubMed
Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) (BRWS; MIM #243310, 614583) is a rare developmental disorder affecting multiple organ systems. It is characterised by intellectual disability (mild to severe) and distinctive facial appearance (metopic ridging/trigonocephaly, bilateral ptosis, hy …