Schinzel Giedion syndrome (DOID:0070509)
Alliance: disease page
Synonyms: Schinzel-Giedion midface retraction syndrome; SGS
Alt IDs: OMIM:269150, MESH:C536632, NCI:C129308, ORDO:798, UMLS_CUI:C0265227
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.