Greig Cephalopolysyndactyly Syndrome
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
Inheritance: Autosomal dominant with high penetrance in majority of cases.
Caused by mutations in the transcription factor GLI3 on chromosome 7p13 resulting in functional haploinsufficiency of GLI3. The mutations include:
Allelic to the Pallister-Hall syndrome (PHS) and one form of the acrocallosal syndrome:
Severe GCPS phenotype is likely caused by deletion of contiguous genes and substantially...
KeywordsPreimplantation Genetic Diagnosis Molecular Genetic Testing Postaxial Polydactyly Structural Chromosome Rearrangement Preaxial Polydactyly
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