Tatton-Brown-Rahman syndrome (TBRS) is a rare genetic disease caused by pathogenic variants in the DNMT3A gene.
The Tatton-Brown-Rahman Syndrome (TBRS)‚ also known as the DNMT3A-overgrowth syndrome‚ is a rare genetic disorder characterized by overgrowth and intellectual disability. It was first identified in 2014 and is caused by pathogenic variants in the DNMT3A gene. Individuals with TBRS typically exhibit tall stature‚ increased weight‚ and intellectual disability. The syndrome is associated with unique facial features and various medical issues‚ making early diagnosis and management crucial for affected individuals.
Definition and Background
The Tatton-Brown-Rahman Syndrome (TBRS) is a rare genetic disorder characterized by overgrowth and intellectual disability caused by DNMT3A gene mutations.
Physical Features
Individuals with Tatton-Brown-Rahman Syndrome (TBRS) commonly exhibit tall stature‚ increased weight‚ large head circumference (macrocephaly)‚ distinctive facial features‚ joint hypermobility‚ hypotonia‚ behavioral/psychiatric issues‚ kyphoscoliosis‚ and seizures. These physical characteristics‚ along with intellectual disability‚ contribute to the unique clinical presentation of TBRS.
Intellectual Disability
Individuals with Tatton-Brown-Rahman Syndrome (TBRS) commonly exhibit intellectual disability ranging from mild to severe‚ alongside other physical characteristics typical of the syndrome.
Genetic Cause of Tatton-Brown-Rahman Syndrome
Tatton-Brown-Rahman Syndrome (TBRS) is a rare genetic disease caused by pathogenic variants in the DNMT3A gene;
DNMT3A Gene Mutation
The genetic cause of Tatton-Brown-Rahman Syndrome (TBRS) is pathogenic variants in the DNMT3A gene. This gene mutation leads to the characteristic features of TBRS‚ including overgrowth and intellectual disability.
Diagnosing Tatton-Brown-Rahman Syndrome (TBRS) involves genetic testing to identify pathogenic variants in the DNMT3A gene‚ as well as clinical evaluation of the characteristic physical and intellectual features associated with the syndrome.
Diagnostic Criteria
The diagnostic criteria for Tatton-Brown-Rahman Syndrome (TBRS) involve genetic testing to identify pathogenic variants in the DNMT3A gene. Clinically‚ individuals with TBRS present with overgrowth‚ distinctive facial features‚ and intellectual disabilities.
Treatment Approaches
Management of Tatton-Brown-Rahman Syndrome (TBRS) involves a multidisciplinary approach addressing the diverse needs of individuals with the condition. Treatment strategies may include early intervention programs‚ special education services‚ physical and occupational therapy‚ speech therapy‚ behavioral interventions‚ and ongoing medical monitoring to address the various clinical manifestations associated with TBRS.
The Tatton-Brown-Rahman Syndrome Community offers support for affected families and focuses on advancing research for interventions and treatments.
The Tatton-Brown-Rahman Syndrome Community
The Tatton-Brown-Rahman Syndrome Community provides support for individuals and families affected by TBRS while also supporting research efforts aimed at better understanding and managing the syndrome.
Current research on Tatton-Brown-Rahman Syndrome (TBRS) focuses on further understanding the impact of DNMT3A gene mutations and developing targeted interventions to improve the quality of life for individuals affected by the syndrome. Ongoing studies aim to uncover new insights into the genetic mechanisms underlying TBRS and explore potential therapeutic strategies to address the diverse clinical manifestations associated with the condition.
Ongoing Studies and Advancements
Current research on Tatton-Brown-Rahman Syndrome (TBRS) is focused on understanding the impact of DNMT3A gene mutations and developing targeted interventions to enhance the quality of life for affected individuals. Ongoing studies are aimed at uncovering new insights into the genetic mechanisms underlying TBRS and exploring potential therapeutic strategies to address the diverse clinical manifestations associated with the condition.
