disease has basis in dysfunction of SETBP1 Schinzel-Giedion syndrome GARD:0000117 ICD10:Q87.0 ICD9:759.89 MESH:C536632 MONDO:0010010 MedDRA:10063540 NCIT:C129308 OMIM:269150 Orphanet:798 SCTID:18899000 SGS Schinzel Giedion midface-retraction syndrome Schinzel Giedion syndrome Schinzel-Giedion midface retraction syndrome Schinzel-Giedion midface-retraction syndrome Schinzel-Giedion syndrome 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. Sgs UMLS:C0265227 syndromic urogenital tract malformation polymalformative genetic syndrome with increased risk of developing cancer ectodermal dysplasia syndrome syndromic renal or urinary tract malformation genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome