Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies (NEDDFSA)

Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies, also known as neddfsa, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and hypermobile ehlers-danlos syndrome. An important gene associated with Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies is ZMIZ1 (Zinc Finger MIZ-Type Containing 1). Affiliated tissues include eye and kidney, and related phenotypes are intellectual disability and delayed speech and language development