Cytoscape Web
Click node...

Greig cephalopolysyndactyly syndrome
1 OMIM reference -
1 associated gene
48 connected diseases
24 signs/symptoms
Disease Type of connection
Acrocallosal syndrome
Pallister-Hall syndrome
Polysyndactyly, bilateral
Polysyndactyly, unilateral
Postaxial polydactyly type A, bilateral
Postaxial polydactyly type A, unilateral
Postaxial polydactyly type B, bilateral
Postaxial polydactyly type B, unilateral
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Alobar holoprosencephaly
Isolated Dandy-Walker malformation with hydrocephalus
Isolated Dandy-Walker malformation without hydrocephalus
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
1p36 deletion syndrome
Shprintzen-Goldberg syndrome
Double outlet right ventricle
Isolated congenitally uncorrected transposition of the great arteries
Situs ambiguus
Split hand-split foot malformation
Desmoplastic / nodular medulloblastoma
Familial multiple meningioma
Medulloblastoma with extensive nodularity
Blepharophimosis-intellectual deficit syndrome, MKB type
FG syndrome type 1
X-linked intellectual deficit with marfanoid habitus
X-linked non-syndromic intellectual deficit
17p13.3 microduplication syndrome
Anophthalmia / microphthalmia - esophageal atresia
Colobomatous microphthalmia
Distal 17p13.3 microdeletion syndrome
Isolated anophthalmia - microphthalmia
Miller-Dieker syndrome
Septo-optic dysplasia
Aneurysm - osteoarthritis syndrome
Familial pancreatic carcinoma
Familial thoracic aortic aneurysm and aortic dissection
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Isolated brachycephaly
Isolated scaphocephaly
Myhre syndrome
Saethre-Chotzen syndrome

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C537300

Gene symbol UniProt reference OMIM reference
GLI3 P10071165240
Very frequent
- Autosomal dominant inheritance
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Postaxial polydactyly (hand)
- Preaxial polydactyly of toes / big toe duplication

- Advanced bone age
- Broad nose / nasal bridge
- Frontal bossing / prominent forehead
- High forehead
- Hypertelorism
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Telecanthus / canthal dystopy

- Broad / bifid big toe
- Broad / bifid thumb
- Corpus callosum / septum pellucidum total / partial agenesis
- Craniostenosis / craniosynostosis / sutural synostosis
- Diaphragmatic hernia / defect / agenesis
- Hydrocephaly
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Postaxial polydactyly of toes / fifth supernumerary toe
- Preaxial polydactyly (hand)
- Seizures / epilepsy / absences / spasms / status epilepticus
- Umbilical hernia