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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version September 2024
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FOXP1 Syndrome?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
International FOXP1 Foundation
Our mission is to build a global community that empowers and supports families and individuals with FOXP1 syndrome by sharing knowledge, inspiring hope, encouraging research, and raising awareness.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.