Carmen Palma-Milla, Aina Prat-Planas, Emma Soengas-Gonda, Mónica Centeno-Pla, Jaime Sánchez-Pozo, Irene Lazaro-Rodriguez, Juan F Quesada-Espinosa, Ana Arteche-Lopez, Jonathan Olival, Marta Pacio-Miguez, María Palomares-Bralo, Fernando Santos-Simarro, Ramón Cancho-Candela, María Vázquez-López, Veronica Seidel, Antonio F Martinez-Monseny, Didac Casas-Alba, Daniel Grinberg, Susanna Balcells, Mercedes Serrano, Raquel Rabionet, Miguel A Martin, Roser Urreizti
BACKGROUND: TRAF7-related cardiac, facial, and digital anomalies with developmental delay (CAFDADD), a multisystemic neurodevelopmental disorder caused by germline missense variants in the TRAF7 gene, exhibits heterogeneous clinical presentations. METHODS: We present a detailed description of 11 new TRAF7-related CAFDADD cases, featuring eight distinct variants, including a novel one. RESULTS: Phenotypic analysis and a comprehensive review of the 58 previously reported cases outline consistent clinical presentations, emphasizing dysmorphic features, developmental delay, endocrine manifestations, and cardiac defects...
March 14, 2024: Pediatric Neurology