📂 Diseases
Baraitser-Winter syndrome — Definition
Baraitser-Winter sendromu / Baraitser-Winter syndrome
Baraitser-Winter syndrome is a rare genetic disease that is rare with neurological abnormalities, characteristic facial appearance and congenital malformations. Among the basic findings, progressive microcephalus, severe mental obstruction, seizures and pitosis, hypertelorism. The disease is caused by mutations in ACTB or ACTG1 genes and indicates autosomal dominant inheritance. The diagnosis, clinical evaluation and genetic tests, the treatment is symptomatic and supportive.
Frequently Asked Questions
❓ What is Baraitser-Winter sendromu?
Baraitser-Winter sendromu; baraitser-Winter syndrome is a rare genetic disease that is rare with neurological abnormalities, characteristic facial appearance and congenital malformations. Among the basic findings, progressive microcephalus, severe mental obstruction, seizures and pitosis, hypertelorism. The disease is caused by mutations in ACTB or ACTG1 genes and indicates autosomal dominant inheritance. The diagnosis, clinical evaluation and genetic tests, the treatment is symptomatic and supportive.
❓ What is Baraitser-Winter syndrome in Turkish?
The Turkish equivalent of "Baraitser-Winter syndrome" is Baraitser-Winter sendromu.
❓ Which medical field is Baraitser-Winter sendromu related to?
This term belongs to the Diseases category.