Greig cephalopolysyndactyly syndrome

A congenital syndrome characterized by variable abnormalities of the limbs, head and face including an unusually prominent forehead (frontal bossing), HYPERTELORISM; MACROCEPHALY; CRANIOSYNOSTOSES; and SYNDACTYLY. Psychomotor development is usually normal. It is caused by mutations or chromosomal translocations invloving the GLI3 gene. OMIM: 175700

Also Known As:

Networked: 13 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Pallister-Hall Syndrome
2.	Polydactyly (Polydactylism)
3.	Craniosynostoses (Craniosynostosis)
4.	Rubinstein-Taybi Syndrome (Syndrome, Rubinstein-Taybi)
5.	Acrocephalosyndactylia (Apert Syndrome)

Experts

1.	Baas, Martijn: 1 article (01/2021)
2.	Burger, Elise Bette: 1 article (01/2021)
3.	Galjaard, Robert Jan H: 1 article (01/2021)
4.	Hovius, Steven Er: 1 article (01/2021)
5.	de Klein, Annelies: 1 article (01/2021)
6.	van Nieuwenhoven, Christianne A: 1 article (01/2021)
7.	van den Ouweland, Ans Mw: 1 article (01/2021)
8.	Faraji Zonooz, Mehrshid: 1 article (01/2020)
9.	Ghaderi-Sohi, Siavash: 1 article (01/2020)
10.	Hashemi, Seyed Abolghasem: 1 article (01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Greig cephalopolysyndactyly syndrome:

1.	Transcription Factors (Transcription Factor)IBA 10/15/2009 - "Mutations in the transcription factor GLI3, a downstream target of Sonic Hedgehog (SHH) signaling, are responsible for the development of malformation syndromes such as Greig-cephalopolysyndactyly-syndrome (GCPS), or Pallister-Hall-syndrome (PHS). " 04/01/2005 - "Mutations in the GLI3 zinc-finger transcription factor gene cause Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS), which are variable but distinct clinical entities. " 03/16/1999 - "Truncation mutations of the GLI3 zinc finger transcription factor can cause Greig cephalopolysyndactyly syndrome (GCPS), Pallister-Hall syndrome (PHS), and postaxial polydactyly type A (PAP-A). " 04/17/1997 - "Haploinsufficiency for the ci-related transcription factor Gli3 causes phenotypic changes in mice (known as 'extra-toes) and humans (Greig's cephalopolysyndactyly syndrome) that have similarities to Rubinstein-Taybi syndrome. " 06/15/2012 - "Mutations in the gene encoding the zinc finger transcription factor GLI3 (GLI-Kruppel family member 3) have been identified in patients with Grieg cephalopolysyndactyly syndrome in which premature fusion of calvarial suture (craniosynostosis) is an infrequent but important feature. "
2.	DNA (Deoxyribonucleic Acid)IBA 01/01/2021 - "Pathogenic DNA variants in the GLI-Kruppel family member 3 (GLI3) gene are known to cause multiple syndromes: for example, Greig syndrome, preaxial polydactyly-type 4 (PPD4) and Pallister-Hall syndrome. " 03/01/1992 - "Southern blot analysis of genomic DNA from 25 human-hamster somatic cell hybrids showed that the human gene for oncomodulin resides on chromosome 7. Analysis of human-mouse hybrids selectively retaining human chromosome 7 or a portion of it allowed specific assignment of the gene locus to the p11-p13 region of chromosome 7 known to be mutated or deleted in patients with the Greig cephalopolysyndactyly syndrome. " 01/01/1992 - "We have previously described the cytogenetic analysis of two patients with Greig cephalopolysyndactyly syndrome (GCPS) and various microdeletions on the short arm of Chromosome (Chr) 7. Using genes and anonymous DNA probes from 7p we analyzed the DNA of our patients for loss of heterozygosity, or we determined the copy number by semi-quantitative Southern hybridization. "
3.	Tuberculin (PPD)IBA 11/01/2012 - "Greig cephalopolysyndactyly syndrome (GCPS) and isolated preaxial polydactyly type IV (PPD-IV) are rare autosomal dominant disorders, both caused by mutations in the GLI3 gene. " 05/01/2005 - "Human GLI3 gene mutations have been identified in several phenotypes of digital abnormality such as Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type-IV (PPD-IV) and postaxial polydactyly. "
4.	DNA ProbesIBA 01/01/1992 - "We have previously described the cytogenetic analysis of two patients with Greig cephalopolysyndactyly syndrome (GCPS) and various microdeletions on the short arm of Chromosome (Chr) 7. Using genes and anonymous DNA probes from 7p we analyzed the DNA of our patients for loss of heterozygosity, or we determined the copy number by semi-quantitative Southern hybridization. "
5.	Proteins (Proteins, Gene)FDA Link 10/01/1997 - "In two GCPS cases, both of which did not exhibit obvious cytogenetic rearrangements, point mutations were identified in different domains of the protein, showing for the first time that Greig syndrome can be caused by GLI3 point mutations. "
6.	Genetic Markers (Genetic Marker)IBA 08/01/1994 - "Craniosynostosis is commonly associated with abnormalities of 7p; Vortkamp et al. (Nature 352, 539-540) demonstrated that the GLI3 gene in 7p13 was disrupted in, patients with Greig syndrome and, more recently, the linkage of genetic markers from 7p with the Saethre-Chotzen syndrome locus has been reported (2,3). "
7.	polyaminopropylbiguanide (PAPB)IBA 01/01/2020 - "Variants in transcriptional activator Gli Kruppel Family Member 3 (GLI3) have been reported to be associated with several phenotypes including Greig cephalopolysyndactyly syndrome (MIM #175700), Pallister-Hall syndrome (PHS) (MIM #146510), postaxial polydactyly types A1 (PAPA1) and B (PAPB) (MIM #174200), and preaxial polydactyly type 4 (MIM #174700). "
8.	oncomodulinIBA 03/01/1992 - "Southern blot analysis of genomic DNA from 25 human-hamster somatic cell hybrids showed that the human gene for oncomodulin resides on chromosome 7. Analysis of human-mouse hybrids selectively retaining human chromosome 7 or a portion of it allowed specific assignment of the gene locus to the p11-p13 region of chromosome 7 known to be mutated or deleted in patients with the Greig cephalopolysyndactyly syndrome. "

Therapies and Procedures

1.	Sutures (Suture) 06/15/2012 - "Mutations in the gene encoding the zinc finger transcription factor GLI3 (GLI-Kruppel family member 3) have been identified in patients with Grieg cephalopolysyndactyly syndrome in which premature fusion of calvarial suture (craniosynostosis) is an infrequent but important feature. "