Bainbridge-Ropers syndrome

Bainbridge-Ropers syndrome is an extremely rare genetic condition first identified in 2013, with more than thirty cases reported abroad and four in China. It is characterized by failure to thrive, feeding problems, hypotonia, intellectual disability, autism, postnatal growth delay, delays in language acquisition and abnormal facial features such as arched eyebrows and anteverted nares. Other morphological features include microcephaly, ulnar deviation of the hands, a barrel chest, an extremely high arched palate, crowded teeth, wide-set eyes and scoliosis. It is caused by a mutation in the ASXL3 gene on the long arm of chromosome 18, usually a de novo mutation. Diagnosis rests on molecular genetic testing for a pathogenic ASXL3 variant, and management is mostly symptomatic, including feeding therapy and treatment of associated problems.