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Greig cephalopolysyndactyly syndrome
rareA syndromic disease caused by a variation in the GLI3 gene, characterized by hypertelorism, macrocephaly accompanied by frontal bossing, and polysyndactyly. The polydactyly is most frequently preaxial in the feet and postaxial in the hands, with variable cutaneous syndactyly. The limb findings are quite variable. Less common features are central nervous system abnormalities, hernias, and neurological disability.
- Identifiers
- MONDO:0008287 OMIM:175700Orphanet:380
- Causal genes
- GLI3
- Also known as
- GCPS · GLI3-related Greig cephalopolysyndactyly spectrum · Greig cephalosyndactyly syndrome · Greig syndrome · Greig's syndrome
Subtypes
| Disease | Subtypes |
|---|---|
| Greig cephalopolysyndactyly-contiguous gene syndrome |
Rare disease
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