Bainbridge–Ropers syndrome

Bainbridge-Ropers Syndrome (BRS) is a rare genetic disorder first described by Bainbridge et al. in 2013. It is characterized by severe intellectual disability, developmental delay, and additional physical and neurological features. The syndrome is caused by de novo mutations in the ASXL3 gene.

Clinical Features

The clinical features of Bainbridge-Ropers Syndrome include severe intellectual disability, limited or absent speech, and difficulties with motor skills. Many individuals with BRS also exhibit autistic behaviors and have feeding difficulties in infancy. Additional features can include distinctive facial features, such as a high forehead, arched eyebrows, and a small mouth, as well as gastrointestinal issues and sleep disturbances.

Genetics

Bainbridge-Ropers Syndrome is caused by de novo mutations in the ASXL3 gene. This gene is involved in the regulation of gene expression, and mutations in ASXL3 disrupt this process, leading to the symptoms of BRS. The syndrome is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the disorder onto their children.

Diagnosis

Diagnosis of Bainbridge-Ropers Syndrome is based on clinical features and confirmed by genetic testing. This typically involves sequencing of the ASXL3 gene to identify the causative mutation.

Treatment

There is currently no cure for Bainbridge-Ropers Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and special education services. Medication may be used to manage symptoms such as sleep disturbances and gastrointestinal issues.

Research

Research into Bainbridge-Ropers Syndrome is ongoing, with scientists working to better understand the function of the ASXL3 gene and how mutations in this gene lead to the symptoms of BRS. This research may eventually lead to new treatments for the syndrome.

NIH genetic and rare disease info

• NIH info on Bainbridge–Ropers syndrome

Bainbridge–Ropers syndrome is a rare disease.

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