MeSH Browser

MeSH Supplementary: Greig cephalopolysyndactyly syndrome
Unique ID: C537300
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537300
Entry Term(s): Cephalopolysyndactyly Syndrome; Greig Cephalopolysyndactyly (Gcps) Syndrome; Greig syndrome; Polysyndactyly with peculiar skull shape
Heading Mapped to: *Acrocephalosyndactylia
Frequency: 31
Note: 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 of Entry: 2010/08/25
Revision Date: 2016/09/29

Greig cephalopolysyndactyly syndrome MeSH Supplementary Concept Data 2024