| A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, hypotonia and characteristic nasal speech associated with language delay. Distinctive craniofacial dysmorphic features include a high and flat forehead, straight and thick eyebrows, deep-set eyes, upslanting palpebral fissures, short triangular nose with anteverted nares, thin upper lip, mild micrognathia/retrognathia, and low-set ears. Feeding problems, seizures, behavioral abnormalities, variable skeletal and hand/foot anomalies may also be present in some patients. This syndrome can develop in patients harboring CNOT2 mutation or intragenic deletion or presenting with 12q15q21 microdeletion. |
