Greig cephalopolysyndactyly syndrome
Findings
No curated finding names Greig cephalopolysyndactyly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndromic disease caused by a variation in the GLI3 gene, characterized by hypertelorism, macrocephaly accompanied by frontal bossing, and polysyndactyly. The polydactyly is most frequently preaxial in the feet and postaxial in the hands, with variable cutaneous syndactyly. The limb findings are quite variable. Less common features are central nervous system abnormalities, hernias, and neurological disability.
Definition from the Mondo Disease Ontology (MONDO:0008287), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
42 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.
- Atrial septal defectHPOHP:0001631
- 1 of 1 reported patient
- BrachydactylyHPOHP:0001156
- 2 of 2 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 2 of 2 reported patients
- KeratoconusHPOHP:0000563
- 1 of 1 reported patient
- OmphaloceleHPOHP:0001539
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.
- GLI3HGNC:4319
- Definitive · Ambry Genetics · Autosomal dominant · 2023
- Definitive · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2023
- Definitive · ClinGen · Autosomal dominant · 2026
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- Narrower terms (1)
Other names
5 names
Resolves to: Greig cephalopolysyndactyly syndrome
- Also called
- GCPSGLI3-related Greig cephalopolysyndactyly spectrumGreig cephalosyndactyly syndromeGreig's syndromepolysyndactyly with peculiar skull shape