Intellectual disability-severe speech delay-mild dysmorphism syndrome

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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 Data version December 2023

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