Schinzel Giedion syndrome

Term ID

DOID:0070509

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. (2)

References

• GARD:117
• MESH:C536632
• NCI:C129308
• OMIM:269150
• ORDO:798
• SNOMEDCT_US_2023_03_01:18899000
• UMLS_CUI:C0265227

Ontology

Human Disease   ( DOID:0070509 )