Tatton Brown Rahman Syndrome

TBRS

Overview

Type of disease: Rare Condition or Disease

Tatton-Brown-Rahman syndrome is characterized by tall stature, a distinctive facial appearance, and intellectual disability. Some patients may have increased susceptibility to the development of acute myeloid leukemia, particularly if they have DNMT3A mutations affecting the R882 residue.

13 unrelated patients reported with a similar phenotype characterized by tall stature, large head circumference, and a facial gestalt manifest as round face, heavy horizontal eyebrows, and narrow palpebral fissures. Intellectual disability was described as moderate in 11 patients and mild in 2 patients. Less common and variable features included atrial septal defects, seizures, umbilical hernia, and scoliosis. None of the patients had a hematologic malignancy.

Tatton-Brown-Rahman syndrome (TBRS) is caused by heterozygous mutation in the DNMT3A gene on chromosome 2p23. Heterozygous mutation in the DNMT3A gene can also cause Heyn-Sproul-Jackson syndrome a reciprocal disorder characterized by microcephalic dwarfism and impaired intellectual development.

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