Greig cephalopolysyndactyly syndrome

(redirected from Cephalopolysyndactyly syndrome)

Greig cephalopolysyndactyly syndrome

(greg), [MIM*175700]
an autosomal dominant disorder characterized by polysyndactyly of the hands and feet, macrocephaly, frontal bossing, hypertelorism, and flat nasal bridge, caused by mutation in the GLI3 gene on chromosome 7p13.

GLI3

A gene on chromosome 7p13 that encodes a DNA-binding C2H2-type zinc finger protein of the Gli family, which plays a role in limb development. The full-length GLI3 (GLI3FL) is a transcriptional activator; GLI3R, the C-terminally truncated form, acts as a repressor of the sonic hedgehog (Shh) pathway.

Molecular pathology
GLI3 mutations are associated with Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, pre-axial polydactyly type IV, and postaxial polydactyly types A1 and B.

Greig ceph·a·lo·pol·y·syn·dac·tyl·y syn·drome

(greg sef'ă-lō-pol'ē-sin-dak'ti-lē sin'drōm)
An autosomal dominant disorder characterized by polysyndactyly of the hands and feet, macrocephaly, frontal bossing, hypertelorism, and flat nasal bridge, caused by mutation in the GLI3 gene on chromosome 7p13.
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References in periodicals archive ?
[3] ACS may represent a heterogenous group of disorders that, in some cases, may result from mutation in GL13 and represent a severe, allelic form of Greig's Cephalopolysyndactyly syndrome. [6]
The differential diagnosis ACS includes Greig's Cephalopolysyndactyly syndrome, Oro-facial digital syndromes Type I and II, Meckel-Gruber syndrome, Smith-Lemlioptiz syndrome, RubinsteinTaybi syndrome.
[15.] Debeer P, Peeters H, Driess S, De Smet L, Freese K, Matthijs G, Bornholdt D, Devriendt K, Grzeschik KH, Fryns JP, Kalff-Suske M (2003) Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations.