Schinzel Giedion syndrome

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

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.

Signs and symptoms

• Tibial bowing
• Small scrotum
• Seizure
• Short nose
• Metopic suture patent to nasal root
• Coarse facial features
• Sacrococcygeal teratoma
• Increased density of long bones
• Prominent forehead
• Hypertelorism

Also known as: SGS; Schinzel-Giedion midface retraction syndrome