Intellectual disability-severe speech delay-mild dysmorphism syndrome
Synonyms: FOXP1 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 December 2023
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Intellectual disability-severe speech delay-mild dysmorphism syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.