intellectual disability-severe speech delay-mild dysmorphism syndrome

Disease Overview

Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads anddelatyed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family). It is caused by alterations (mutations) in the caused by heterozygous mutation in the FOXP1 gene.

Synonyms

• FOXP1 related global developmental delay, intellectual disability and speech defects
• intellectual disability with language impairment and with or without autistic features
• intellectual disability-severe speech delay-mild dysmorphism syndrome
• mental retardation with language impairment and with or without autistic features