Living with Greig cephalopolysyndactyly syndrome
A condition affecting the limbs, head, and face, with extra fingers or toes, a wide-set eyes look, and a large head; it ranges from very mild to severe.
Understanding Greig cephalopolysyndactyly syndrome
Features range from very mild to severe. People usually have one or more extra fingers or toes (polydactyly) or an unusually wide thumb or big toe. The skin between fingers and toes may be fused. Other features include widely spaced eyes, a large head (macrocephaly), and a high, prominent forehead. Rarely there are seizures, delayed development, or intellectual disability. It begins during pregnancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Extra fingers or toes (polydactyly)
- Fused skin between fingers and toes (syndactyly)
- Widely spaced eyes
- Large head size (macrocephaly)
- High, prominent forehead
- Wide nasal bridge
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in GLI3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with World Craniofacial Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the GLI3 gene cause this condition. It is inherited in an autosomal dominant way, which means one changed copy of the gene is enough.
Also known as: gcps; greig cephalosyndactyly syndrome; greig syndrome; greig's syndrome; polysyndactyly with peculiar skull shape; polysyndactyly with peculiars skull shape
Patient organizations
- World Craniofacial FoundationGreig cephalopolysyndactyly syndrome · United States
- Children's Craniofacial AssociationGreig cephalopolysyndactyly syndrome · United States
- FACES: The National Craniofacial AssociationGreig cephalopolysyndactyly syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Greig cephalopolysyndactyly syndrome.
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