FaCD Online Syndrome Fact Sheet

Last updated: 13 Apr 2008

Name: Greig Cephalopolysyndactyly

Mode of Inheritance: AD

Genes

GLI3, mapped to 7p13

Tumor features (possible)

leukemia, acute lymphoblastic (ALL)
medulloblastoma

Non-tumor features

del(7)(p11.2 p14) (constitutional)
frontal bossing / prominent forehead
hypertelorism
macrocephaly
nasal bridge, broad
polydactyly
polydactyly, postaxial
polydactyly, preaxial
syndactyly of fingers
syndactyly of toes
t(..;7)(..;p13) (constitutional)

Comment

Clinical hallmarks are pre- and postaxial polydactyly and syndactyly of hands and feet, macrocephaly, frontal bossing, hypertelorism and broad base of the nose.
Tommerup and Nielsen[1] reported the disorder in a family, segregating with a (3;7) translocation. One of the affected family members, a girl, died at the age of 2 1/2 years of a medulloblastoma.

Mendoza-Londono et al reported on acute lymphoblastic leukemia diagnosed in a patient with Greig cephalopolysyndactyly and an interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 gene[2].

References

[1] Tommerup N, Nielsen F. A familial reciprocal translocation t(3;7)(p21.1;p13) associated with the Greig polysyndactyly-craniofacial anomalies syndrome. Am J Med Genet 1983; 16:313-321.
[2] Mendoza-Londono R, Kashork CD, Shaffer LG, Krance R, Plon SE. Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genes. Genes, chromosomes & cancer 2005; 42(1):82-6.