Conditions / Genetic
Tatton-Brown-Rahman syndrome
info · Genetic
A syndromic intellectual disability characterized by tall stature, a distinctive facial appearance, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DNMT3A gene on chromosome 2p23.3.
Signs and symptoms
- Epicanthus
- Everted upper lip vermilion
- Deep philtrum
- Anteverted nares
- Talipes valgus
- Exaggerated cupid's bow
- Short columella
- Hypotonia
- Ventricular septal defect
- Overgrowth
Also known as: DNMT3A overgrowth syndrome; DOS; TBRS; Tatton-Brown-Rahman overgrowth syndrome