Intellectual disability-severe speech delay-mild dysmorphism syndrome
Intellectual disability-severe speech delay-mild dysmorphism syndrome
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).
Also known as FOXP1 haploinsufficiency, FOXP1 syndrome, FOXP1-related neurodevelopmental disorder, intellectual disability-severe speech delay-mild dysmorphism syndrome — per MONDO