Metopic ridging-ptosis-facial dysmorphism syndrome
Engelsk navn: Metopic ridging-ptosis-facial dysmorphism syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome with variable intellectual disability characterized by abnormal head shape/metopic ridging and facial dysmorphism (which may include arched eyebrows, ptosis, downslanting palpebral fissures, epicanthal folds, and short upturned nose). Many patients present variable global developmental delay and/or autism spectrum disorder. Additional reported features are cardiac, skeletal, or urogenital anomalies. Brain imaging may show agenesis of the corpus callosum.