Radioulnar synostosis-developmental delay-hypotonia syndrome
Radioulnar synostosis-developmental delay-hypotonia syndrome
Definition
Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).
Also known as Der Kaloustian-McIntosh-Silver syndrome, radioulnar synostosis with developmental delay and hypotonia syndrome — per MONDO