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Grieg cephalopolysyndactyly syndrome
Genetics:
- autosomal dominant
- associated with defects in GLI3
Clinical manifestations:
- disorder affecting limb & craniofacial development
- pre- & post-axial polydactyly
- syndactyly of fingers & toes
- macrocephaly
- hypertelorism
Laboratory:
- see ARUP consult [3]
General
developmental bone disorder
genetic disease of bone/skeletal system
Database Correlations
OMIM 175700
References
- OMIM :accession 175700
- Uniprot :accession P10071
- ARUP Consult:
Pallister-Hall/Greig Cephalopolysyndactyly Syndromes Testing
https://arupconsult.com/ati/pallister-hall-greig-cephalopolysyndactyly-syndromes-testing