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Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.

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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

Mutations in the GLI3 gene cause Greig cephalopolysyndactyly syndrome. This gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting with certain genes at specific times during development, the GLI3 protein plays a role in the normal shaping (patterning) of many organs and tissues before birth.

Different genetic changes involving the GLI3 gene can cause Greig cephalopolysyndactyly syndrome. In some cases, the condition results from a chromosomal abnormality, such as a large deletion or rearrangement of genetic material, in the region of chromosome 7 that contains the GLI3 gene. In other cases, a mutation in the GLI3 gene itself is responsible for the disorder. Each of these genetic changes prevents one copy of the gene in each cell from producing any functional protein. It is unclear how a reduced amount of this protein disrupts early development and causes the characteristic features of Greig cephalopolysyndactyly syndrome.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes Greig cephalopolysyndactyly syndrome?"},{"bodyHtml":"

Source: MedlinePlus Genetics

","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"greig-cephalopolysyndactyly-syndrome","sourceDocuments":[{"name":"Greig cephalopolysyndactyly syndrome","reviewed":"2006-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:58.060625+00:00","label":"Causes","pageSha256":"69fea0285726b14f3ad846c08f9ec6e2af230f4667ca2989265e889780a21bb4","sourceUrl":"https://medlineplus.gov/genetics/condition/greig-cephalopolysyndactyly-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/greig-cephalopolysyndactyly-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Greig cephalopolysyndactyly syndrome"},"schemaVersion":1}