Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
Definition
Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.
Also known as Schinzel Giedion Syndrome, Schinzel-Giedion midface-retraction syndrome, Schinzel-Giedion syndrome, SGS — per MONDO