Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review

Genes (Basel). 2021 Oct 23;12(11):1674. doi: 10.3390/genes12111674.


Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder (about 200 cases reported), characterized by macrocephaly, hypertelorism, and polysyndactyly. Most of the reported GCPS cases are the results of heterozygous loss of function mutations affecting the GLI3 gene (OMIM# 175700), while a small proportion of cases arise from large deletions on chromosome 7p14 encompassing the GLI3 gene. To our knowledge, only 6 patients have been reported to have a deletion with an exact size (given by genomic coordinates) and a gene content larger than 1 Mb involving the GLI3 gene. This report presents a patient with Greig cephalopolysyndactyly contiguous gene syndrome (GCP-CGS) diagnosed with a large, 18 Mb deletion on chromosome 7p14.2-p11.2. Similar cases are reviewed in the literature for a more accurate comparison between genotype and phenotype.

Keywords: Greig cephalopolysyndactyly; Greig cephalopolysyndactyly contiguous gene syndrome; array-CGH; deletion 7p; structural chromosomal anomalies.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Acrocephalosyndactylia / genetics*
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 7 / genetics*
  • Comparative Genomic Hybridization
  • Humans
  • Karyotype
  • Male
  • Nerve Tissue Proteins / genetics*
  • Zinc Finger Protein Gli3 / genetics*


  • GLI3 protein, human
  • Nerve Tissue Proteins
  • Zinc Finger Protein Gli3

Supplementary concepts

  • Greig cephalopolysyndactyly syndrome