Overview
Greig cephalopolysyndactyly is a rare syndrome affecting human
growth and development. This syndrome causes abnormalities in various body features.
Etymological Primer
- Poly: Having more than one.
- Dactyl: Latin (dactylus) for finger or toe; digit.
- Syn: With, together.
- Macro: Greek (makros) for large.
- Cephalic: Latin (cephalicus) for head.
Charateristic Anomalies
- Polydactyly: Having superfluous fingers or toes.
- Cutaneous Syndactyly: Having webbed fingers or toes.
- Macrocephaly: Having an extremely large head.
- Ocular Hypertelorism: Eyes spaced too far apart.
- Frontal Bossing: A high, prominent forehead.
- Seizures and Mental retardation are rare.
Genetic Basis
GCPS is related to the encoding of chromosome 7, specifically a gene
known as GLI3. This gene is involved in the shaping and patterning of
organs. GCPS can be caused by either a mutation in the section of
Chromosome 7 that contains GLI3, or by a mutation in the gene itself,
which retards viable protein synthesis. The condition is autosomal
dominant; a person with CCPS is 50% likely to pass the condition to
their children.
Sources:
CCDD
WebMD
Gene Reviews
Genetics Home Reference