Simpson-Golabi-Behmel syndrome
Findings
No curated finding names Simpson-Golabi-Behmel syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.
Definition from the Mondo Disease Ontology (MONDO:0010731), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
78 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.
- Abnormal rib morphologyHPOHP:0000772
- Very frequent (80% to 99% of cases)
- Broad footHPOHP:0001769
- Very frequent (80% to 99% of cases)
- Coarse facial featuresHPOHP:0000280
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- HepatomegalyHPOHP:0002240
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Increased circulating IgE concentration
Show the remaining 66
- Short footHPOHP:0001773
- Very frequent (80% to 99% of cases)
- Short toeHPOHP:0001831
- Very frequent (80% to 99% of cases)
- SplenomegalyHPOHP:0001744
- Very frequent (80% to 99% of cases)
- Supernumerary nippleHPOHP:0002558
- Very frequent (80% to 99% of cases)
- Tall statureHPOHP:0000098
- Very frequent (80% to 99% of cases)
- Ventricular septal defectHPOHP:0001629
- Very frequent (80% to 99% 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.
- GPC3HGNC:4451
- Definitive · ClinGen · X-linked · 2019
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
7 names
Resolves to: Simpson-Golabi-Behmel syndrome
- Also called
- DGSXGolabi-Rosen syndromeSara Angers syndromeSDYSSGB syndromeSGBSX-linked dysplasia gigantism syndrome