Greig Cephalopolysyndactyly Syndrome

Reference work entry

Greig cephalopolysyndactyly (GCPS) syndrome is named after David Middleton Greig for his 1926 description of a patient with unusual head shape, hypertelorism, and limb anomalies. It is a rare, pleiotropic, multiple congenital anomaly syndrome characterized by the primary clinical triad of polysyndactyly, macrocephaly, and hypertelorism.

Synonyms and Related Disorders

Cephalopolysyndactyly; Polysyndactyly with peculiar skull shape

Genetics/Basic Defects

  1. 1.

    Inheritance: Autosomal dominant with high penetrance in majority of cases.

  2. 2.
    Caused by mutations in the transcription factor GLI3 on chromosome 7p13 resulting in functional haploinsufficiency of GLI3. The mutations include:
    1. a.

      Point mutations

    2. b.

      Frameshift mutations

    3. c.

      Translocation mutations

    4. d.

      Deletion mutations

    5. e.

      Insertion mutations

  3. 3.
    Allelic to the Pallister-Hall syndrome (PHS) and one form of the acrocallosal syndrome:
    1. a.

      Severe GCPS phenotype is likely caused by deletion of contiguous genes and substantially...


Preimplantation Genetic Diagnosis Molecular Genetic Testing Postaxial Polydactyly Structural Chromosome Rearrangement Preaxial Polydactyly 
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