Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP

Rubinstein&#x2013;Taybi syndrome (RSTS) is a rare genetic disorder characterized by dysmorphic facial features, broad thumbs and halluces, intellectual disability, and postnatal growth retardation. This report presents a male infant with microcephaly and characteristic facial features, namely, low anterior hairline, hirsutism, thin upper lip and micrognathia, broad thumbs and first toes, cryptorchidism, recurrent pneumonia, developmental delay, and growth retardation. Genetic testing showed a novel pathogenic variant in the <i>CREBBP</i> gene which is consistent with the clinical diagnosis of RSTS.

Rubinstein-Taybi syndrome: MedlinePlus Genetics

a Patient 16 (negative for CREBBP mutations); b patient 17

Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene

child with features of RSTS Download Scientific Diagram

PDF) Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel

Rubinstein–Taybi syndrome - Wikiwand

De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2

A novel CREBBP mutation and its phenotype in a case of Rubinstein

Genes, Free Full-Text

Child with rare disease fights for his life

Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome

Rubinstein-Taybi Syndrome: A Complete Overview — DermNet