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Greig cephalopolysyndactyly syndrome MeSH Supplementary Concept Data 2024


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
Registry Number
0
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 Preferred
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