intellectual disability-severe speech delay-mild dysmorphism syndrome

Rare Disease

MONDO:0013352

Also Known As

FOXP1 haploinsufficiencyFOXP1 syndromeFOXP1-related neurodevelopmental disorderintellectual disability-severe speech delay-mild dysmorphism syndromeFOXP1 related global developmental delay, intellectual disability and speech defectsintellectual disability with language impairment and with or without autistic featuresmental retardation with language impairment and with or without autistic features

Definition

An autosomal dominant form of syndromic intellectual disability caused by mutation in the FOXP1 gene. It is characterized by global developmental delay with moderate to severe speech delay that affects 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 and delayed 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).