Greig cephalopolysyndactyly syndrome [Supplementary Concept]
A congenital syndrome characterized by variable abnormalities of the limbs, head and face including an unusually prominent forehead (frontal bossing), HYPERTELORISM; MACROCEPHALY; CRANIOSYNOSTOSES; and SYNDACTYLY. Psychomotor development is usually normal. It is caused by mutations or chromosomal translocations invloving the GLI3 gene. OMIM: 175700
Date introduced: August 25, 2010
MeSH Unique ID: C537300
Heading Mapped to:
Entry Terms:
- Greig syndrome
- Polysyndactyly with peculiar skull shape
- Cephalopolysyndactyly Syndrome
- Greig Cephalopolysyndactyly (Gcps) Syndrome