Greig Cephalopolysyndactyly Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Greig Cephalopolysyndactyly Syndrome?
Care is most often led by a medical geneticist. Other specialists may include a craniofacial surgeon for the skull and face, a hand or foot surgeon, and a neurosurgeon when needed. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What it is
Greig cephalopolysyndactyly syndrome is a rare genetic condition present from birth. The name describes the features: cephalo means head, poly means many, and syndactyly means joined fingers or toes. People with this syndrome often have a large or prominent head, extra fingers or toes, and webbing between some of them.
The syndrome does not usually affect intelligence or lifespan. Most problems involve the shape of the head, hands, and feet.
Symptoms
The most common signs are extra fingers or toes, usually next to the big toe or thumb, and webbing or fusion between some fingers or toes. Many also have a large forehead and high, broad nose bridge. Some people have very mild features.
Causes and who gets it
The syndrome is caused by a change in the GLI3 gene, which helps control how the brain, hands, and feet form before birth. A child of a parent with the gene change has a one in two chance of having it. It is very rare.
How doctors diagnose it
Doctors look at the pattern of head and hand or foot features and ask about family history. A genetic test can confirm a change in the GLI3 gene.
Treatment
There is no cure, but surgery can separate fused fingers or toes or remove extra ones, especially when they make it hard to use the hands or walk.
When to see a doctor
Talk to a doctor if a baby is born with extra or fused fingers or toes, or has an unusually large or prominent forehead. A doctor can refer the family to a geneticist.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance; a concierge doctor usually charges more and often works alongside insurance. Either can handle routine checkups, coordinate referrals, and refer to specialists when needed.
Common questions
Does Greig cephalopolysyndactyly syndrome affect intelligence?
Most people with this syndrome have typical intelligence. A smaller number of people have developmental delays, meaning they reach milestones like walking or talking later than expected. Each person is different, so regular checkups help catch any concerns early.
Can the syndrome be cured?
There is no cure because the condition comes from a change in a person's genes. Surgery can improve how the hands, feet, or skull look and work. Results differ from person to person.
Will my children have it if I do?
If a parent has the changed GLI3 gene, each child has a one in two chance of inheriting it. Some people with the gene change have very mild features, so a parent may not realize they have it. A genetic counselor can explain the chances for a specific family.
Is surgery always needed?
No. Some people have mild features that do not interfere with daily life. Surgery is usually considered when fused or extra fingers or toes affect hand or foot function, or when a family and doctors decide it makes sense for appearance or comfort.
Sources
- MedlinePlus Genetics - Greig cephalopolysyndactyly syndrome
- NIH Genetic and Rare Diseases Information Center - Greig cephalopolysyndactyly syndrome
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
