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Greig Cephalopolysyndactyly Syndrome.

Authors

Biesecker LG1.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2001 Jul 9 [updated 2014 Jun 19].

Author information

1
Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland

Excerpt

CLINICAL CHARACTERISTICS:

Typical Greig cephalopolysyndactyly syndrome (GCPS) is characterized by preaxial polydactyly or mixed pre- and postaxial polydactyly, true widely spaced eyes, and macrocephaly. Individuals with mild GCPS may have subtle craniofacial findings. The mild end of the GCPS spectrum is a continuum with preaxial polysyndactyly type IV and crossed polydactyly (preaxial polydactyly of the feet and postaxial polydactyly of the hands plus syndactyly of fingers 3-4 and toes 1-3). Individuals with severe GCPS can have seizures, hydrocephalus, and intellectual disability.

DIAGNOSIS/TESTING:

The diagnosis of GCPS is based on clinical findings and family history. GLI3 is the only gene known to be associated with GCPS; GLI3 alterations (i.e., cytogenetic abnormalities involving GLI3 or pathogenic variants of GLI3) can be identified in more than 75% of typically affected individuals.

MANAGEMENT:

Treatment of manifestations: Elective surgical repair of polydactyly with greatest priority given to correction of preaxial polydactyly of the hands; evaluation and treatment as needed for hydrocephalus or other CNS abnormalities in individuals showing signs of increased intracranial pressure, developmental delay, loss of milestones, and/or seizures. Surveillance: Monitoring for evidence of occipitofrontal circumference (OFC) increasing faster than normal.

GENETIC COUNSELING:

GCPS either is inherited in an autosomal dominant manner (either as a pathogenic variant in GLI3 or as a deletion of 7p13 involving GLI3) or occurs as the result of a de novo or inherited chromosome rearrangement. Individuals with GCPS as the result of a GLI3 pathogenic variant may have an affected parent or may have the disorder as the result of a de novo pathogenic variant. The proportion of cases caused by de novo pathogenic variants is unknown. Each child of an individual with a GLI3 pathogenic variant has a 50% chance of inheriting the pathogenic variant. Prenatal testing for pregnancies at increased risk is possible if the underlying genetic cause in the family (i.e., deletion of 7p13, balanced chromosome rearrangement, or GLI3 pathogenic variant) has been identified. The reliability of ultrasound examination for prenatal diagnosis is unknown.

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