Additional Disease Briefs

NORD Summit 2026 Banner Ad


arthrogryposis multiplex congenita-whistling face syndrome

Also known as: ILLUM syndrome, Illum syndrome, arthrogryposis multiplex congenita whistling face, arthrogryposis, whistling face, and developintellectual disability, arthrogryposis, whistling face, and developmental retardation, lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system






arthrogryposis-renal dysfunction-cholestasis syndrome

Also known as: ARC syndrome, arthrogryposis - renal dysfunction - cholestasis, arthrogryposis multiplex congenita, renal dysfunction, and cholestasis, arthrogryposis renal dysfunction cholestasis syndrome, arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome, arthrogryposis, renal dysfunction, and cholestasis, arthrogryposis-renal dysfunction-cholestasis


arthrogryposis-severe scoliosis syndrome

Also known as: DA4, arthrogryposis with Severe scoliosis, arthrogryposis, distal, type 2D, arthrogryposis, distal, type 4, distal arthrogryposis type 4, distal arthrogryposis type IID