| Main clinical features
|
developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability
dysmorphic facial features: a triangular face with a small pointed chin, low-set and posteriorly rotated ears, a depressed or wide nasal bridge with a broad nasal tip, telecanthus, and epicanthal folds
striking cervical spine anomalies, including clefting of the posterior arch of the atlas (C1) and partial fusion of C2 and C3 cervical vertebrae ; the spine abnormalities are a hallmark of this syndrome (PMID: 28886341)) |