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 is a condition that affects the development of many parts of the body, particularly the face and the brain. An unusual facial appearance is the most common characteristic of Baraitser-Winter 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.

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 (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 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 type 2 is a condition affecting the development of many parts of the body, particularly the brain and face, with only seven previously reported cases in medical literature. 1 There are many distinctive clinical characteristics that help distinguish Baraitser–Winter syndrome type 2 from phenotypically similar ...

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 (BWCFF) syndrome is a multiple congenital anomaly syndrome characterized by typical craniofacial features and intellectual disability.

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). The additional presence of ...