Tatton-Brown–Rahman syndrome
| Tatton-Brown–Rahman syndrome | |
|---|---|
| Other names | DNMT3A overgrowth syndrome |
| Specialty | Medical genetics |
| Symptoms | Intellectual disability, overgrowth, facial dysmorphisms |
| Usual onset | Present at birth |
| Causes | DNMT3A mutation |
| Diagnostic method | Molecular genetic testing |
| Differential diagnosis | Cohen–Gibson syndrome, Fragile X syndrome, Malan syndrome, Simpson–Golabi–Behmel syndrome, Sotos syndrome, Weaver syndrome |
| Treatment | Based on symptoms |
| Frequency | 90 reported cases |
| Named after | Nazneen Rahman |
Tatton-Brown–Rahman syndrome (TBRS) is a rare overgrowth and intellectual disability syndrome caused by autosomal dominant mutations in the DNMT3A gene. The syndrome was first recognized in 2014 by Katrina Tatton-Brown, Nazneen Rahman, and collaborators.