Here I present: “Greig Cephalopolysyndactyly Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (GLI3) icd10=Q87.0
INTRODUCTION.
Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face.The features of this syndrome are highly variable, ranging from very mild to severe. People with this condition typically have one or more extra fingers or toes (polydactyly) or an abnormally wide thumb or big-toe (hallux).
Greig cephalopolysyndactyly syndrome is characterized by frontal bossing, scaphocephaly, and hypertelorism associated with pre- and postaxial polydactyly and variable syndactyly. The phenotype shows variable expressivity and can also include craniosynostosis.
There is evidence that Greig cephalopolysyndactyly syndrome (GCPS) is caused by heterozygous mutation in the GLI-Kruppel family member-13 (GLI3) gene on cytogenetic location 7p14.1 and genomic coordinates 7:41,960,949-42,264,268. The screenshot of the GLI3 gene 303,320 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides GLI3 in the 7p14.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 7:39,950,256 | CDK13 | Cyclin-dependent kinase 13 |
| 7:40,126,027 | MPLKIP | M-phase specific PLK1 interacting protein |
| 7:40,135,005 | SUGCT | Succinyl-CoA:glutarate-CoA transferase |
| 7:41,685,114 | INHBA | Inhibin, beta-1 |
| 7:41,960,949 | GLI3 | GLI-Kruppel family member GLI3 (oncogene GLI3) |
| 7:42,916,861 | PSMA2 | Proteasome (prosome, macropain) subunit, alpha type, 2 |
| 7:42,932,376 | MRPL32 | Mitochondrial ribosomal protein L32 |
| 7:43,112,647 | HECW1 | HECT, C2, and WW domains-containing E3 ubiquitin-protein ligase 1 |
| 7:43,300,001 | SLERT | Box H/ACA small nucleolar RNA-ended long noncoding RNA |
| 7:43,300,001 | SRS2 | Silver-Russell syndrome |
