FOXP1 Syndrome

Synonyms: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome

A rare genetic syndromic intellectual disability disorder with highly variable phenotype typically characterized by mild to severe global development delay severe speech and language impairment mild to severe intellectual disability dysphagia hypotonia relative to true macrocephaly and behavioral problems that may include autistic features hyperactivity and mood lability. Facial gestalt typically features a broad prominent forehead hypertelorism downslanting palpebral fissures ptosis a short bulbous nose with broad tip thick vermilion border wide and open mouth with downturned corners. Brain cardiac urogenital and ocular malformations may be associated.