Greig cephalopolysyndactyly syndrome
MIM.175700
GCPS
Autosomal dominant disease with variable expressivity
Macrocopical synopsis
craniofacial anomalies
- macrocephaly
- scaphocephaly
- high forehead
- frontal bossing
- hypertelorism
- downslanting palpebral fissures
- broad nasal root
- broad late closing cranial sutures
- craniosynostosis
abdominal anomalies
- umbilical hernia
- inguinal hernia
limb anomalies
- advanced bone age
- postaxial polydactyly
- broad thumbs
- syndactyly (usually fingers 3 and 4)
- preaxial polydactyly (variable)
- camptodactyly
- preaxial polydactyly
- broad halluces
- syndactyly (usually toes 1 to 3)
- postaxial polydactyly (rare)
- camptodactyly
cerebral anomalies
- hydrocephaly
- agenesis of corpus callosum
Cytogenetics
7p13 translocation
7p13 deletions
Etiology
germline mutations of GLI-Kruppel family member GLI3 gene (MIM.165240)
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