Bohring-Opitz syndrome

Disease Overview

Bohring-Opitz syndrome is a rare genetic condition characterized by intrauterine growth restriction (IUGR), failure to thrive, sleep apnea, developmental delay, hypotonia, flexion of the elbows and wrists, excessive hair growth, Wilm’s tumor, microcephaly, brain malformations, and distinctive facial features. The condition is caused by mutations in the ASXL1 gene.[11237][11238] The inheritance of Bohring-Opitz syndrome remains unknown, as nearly all cases to date have occurred sporadically.[11239] 

Synonyms

• Opitz trigonocephaly-like syndrome
• Bohring syndrome
• BOS syndrome
• C-like syndrome