Schinzel-Giedion syndrome
Findings
No curated finding names Schinzel-Giedion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0010010), read 2026-09-29. CC BY 4.0.
Features
93 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Broad foreheadHPOHP:0000337
- Very frequent (80% to 99% of cases)
- Broad nasal tipHPOHP:0000455
- Very frequent (80% to 99% of cases)
- Frontal bossingHPOHP:0002007
- Very frequent (80% to 99% of cases)
- Midface retrusionHPOHP:0011800
- Very frequent (80% to 99% of cases)
- Neurodevelopmental delayHPOHP:0012758
- Very frequent (80% to 99% of cases)
- Profound global developmental delayHPOHP:0012736
- Very frequent (80% to 99% of cases)
- Short noseHPOHP:0003196
- Very frequent (80% to 99% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Frequent (30% to 79% of cases)
- Abnormal helix morphologyHPOHP:0011039
- Frequent (30% to 79% of cases)
- Abnormality of the genital systemHPOHP:0000078
- Frequent (30% to 79% of cases)
- Abnormality of the outer earHPOHP:0000356
- Frequent (30% to 79% of cases)
- Broad ribsHPOHP:0000885
- Frequent (30% to 79% of cases)
Show the remaining 81
- Facial hemangiomaHPOHP:0000329
- Frequent (30% to 79% of cases)
- Failure to thrive in infancyHPOHP:0001531
- Frequent (30% to 79% of cases)
- Generalized hypertrichosisHPOHP:0004554
- Frequent (30% to 79% of cases)
- HydronephrosisHPOHP:0000126
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SETBP1HGNC:15573
- Definitive · ClinGen · Autosomal dominant · 2021
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: Schinzel-Giedion syndrome
- Also called
- Schinzel Giedion SyndromeSchinzel-Giedion midface-retraction syndromeSGS