hrp0097p1-515 | Growth and Syndromes | ESPE2023

Two novel cases of CHOPS syndrome support the evidence of a highly homogeneous phenotype including short stature with skeletal abnormalities and obesity

Orlandini Eleonora , Montanari Francesca , Severi Giulia , Tamburrino Federica , Schiavariello Concetta , Perri Annamaria , Cesarini Sofia , Soliani Luca , Scarano


CHOPS syndrome is a rare monogenic disorder caused by heterozygous gain-of-function variants in AFF4. The 13 patients reported to date share a highly recognizable phenotype: Coarse face, Cognitive impairment, Heart defects, Obesity, Pulmonary involvement, Short stature and Skeletal dysplasia. AFF4 encodes a scaffold protein involved in transcriptional elongation and critical for gene expression regulation during embryogenesis. Notably, it appears to regulate adipogenic differe...