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  At our Brain Development and Genetics (BrDG) Clinic at Children's Hospital Boston, we evaluate children with a wide range of brain development disorders. In many of these conditions, the brain does not develop normally before birth. These can be called brain malformations or malformations of cortical development.
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BRAIN DEVELOPMENT AND GENETICS CLINIC

The Brain Development and Genetics (BrDG) clinic is designed to bridge the services of neurology and genetics and provide a multi-disciplinary approach to diagnosing, treating and counseling patients with brain malformations, as well as their families. Brain malformations (or malformations of cortical development) are disorders in which the brain does not develop normally before birth. They can arise from many different genetic or non-genetic causes. In some cases, brain malformations can be due to a genetic change (mutation) that is inherited in a family, while in other cases they can result from non-genetic problems during pregnancy, such as certain maternal infections.

The diagnosis of a brain malformation often leaves families with many questions and looking for more information. These conditions are rare and information about them is often hard to find. The BrDG clinic combines our specialties of neurology, genetics, genetic counseling and research to provide a comprehensive approach to working with children and adults with brain malformations, and to help address their unanswered questions.

Our team of doctors can review a diagnosis and supporting clinical test results as well as discuss potential treatment options for neurological symptoms. Patients and their families can meet with a genetic counselor to learn about the inheritance of brain malformations. We can also provide information about participating in research studies looking for genes involved in brain development.

Some of the specific conditions seen in our clinic include:
  • Polymicrogyria (PMG) including:
                    Perisylvian PMG, also called Perisylvian Syndrome
                    Bilateral Frontal PMG (BFP)
                    Bilateral Frontoparietal Polymicrogyria (BFPP)
                    Diffuse PMG
  • Heterotopias including:
                    Periventricular Heterotopia (PH), also called periventricular nodular heterotopia (PNH or PVNH)
                    Subcortical Heterotopias
                    Subcortical Band Heterotopia (SBH), also called Double Cortex Syndrome
  • Lissencephaly (LIS) including:
                    Lissencephaly with Cerebellar Hypoplasia (LCH)
                    Incomplete lissencephaly, also called variant lissencephaly
  • Microcephaly
  • Pachygyria
  • Double Cortex Syndrome (DCS)
  • Focal Cortical Dysplasia (FCD), also called focal brain malformations
  • Hemimegalencephaly
  • Joubert syndrome
  • Interhemispheric Cysts with Agenesis of the Corpus Callosum (IHC/ACC)
  • Schizencephaly
  • Walker-Warburg Syndrome (WWS) and related conditions
We welcome inquires regarding other conditions not listed here but which might be similar or related to disorders of brain development.

GENERAL GENETIC SERVICES

The Division of Genetics at CHB is available to see children and young adults with a wide range of medical conditions. These conditions might or might not involve problems affecting brain development. If a child has not had a general genetics evaluation, this could be suggested prior to or after being seen in the BrDG clinic depending on a child's symptoms and history.
  • To learn more about the many services provided by Children's Hospital Boston Division of Genetics, please Click here
  • To schedule an appointment with Children's Hospital Boston Division of Genetics, please Click here

 


 
 
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