Term Name:	Schinzel Giedion syndrome
Synonyms:	Schinzel-Giedion midface retraction syndrome, SGS
Definition:	An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3.
Ontology:	Human Disease [DOID:0070509]   ( DOID:0070509 )