Skip to main content
U.S. Department of Health & Human Services
National Institutes of Health
NCATS

COVID-19 is an emerging, rapidly evolving situation.

Get the latest public health information from CDC: https://www.coronavirus.gov (link is external)
Get the latest research information from NIH: https://www.nih.gov/coronavirus (link is external)

National Center for Advancing and Translational Sciences National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences
1-888-205-2311
Menu Search
1-888-205-2311
Menu
  • Home
  • Diseases expand submenu for Diseases
    • Browse A-Z
    • Find Diseases By Category expand submenu for Find Diseases By Category
      • Autoimmune / Autoinflammatory diseases
      • Bacterial infections
      • Behavioral and mental disorders
      • Blood Diseases
      • Chromosome Disorders
      • Congenital and Genetic Diseases
      • Connective tissue diseases
      • Digestive Diseases
      • Ear, Nose, and Throat Diseases
      • Endocrine Diseases
      • Environmental Diseases
      • Eye diseases
      • Female Reproductive Diseases
      • Fungal infections
      • Heart Diseases
      • Hereditary Cancer Syndromes
      • Immune System Diseases
      • Kidney and Urinary Diseases
      • Lung Diseases
      • Male Reproductive Diseases
      • Metabolic disorders
      • Mouth Diseases
      • Musculoskeletal Diseases
      • Myelodysplastic Syndromes
      • Nervous System Diseases
      • Newborn Screening
      • Nutritional diseases
      • Parasitic diseases
      • Rare Cancers
      • RDCRN
      • Skin Diseases
      • Viral infections
    • List of FDA Orphan Drugs
    • GARD Information Navigator
    • FAQs About Rare Diseases
  • Guides expand submenu for Guides
    • Patients, Families and Friends expand submenu for Patients, Families and Friends
      • How to Find a Disease Specialist
      • Tips for the Undiagnosed
      • Support for Patients and Families
      • Tips for Finding Financial Aid
      • Help with Travel Costs
      • How to Get Involved in Research
      • FAQs About Chromosome Disorders
      • Medical and Science Glossaries
    • Healthcare Professionals expand submenu for Healthcare Professionals
      • Caring for Your Patient with a Rare Disease
      • ICD Coding for Rare Diseases
      • FindZebra Diagnosis Assist Tool
    • Researchers expand submenu for Researchers
      • Finding Funding Opportunities
    • Teachers and Students expand submenu for Teachers and Students
      • Teaching Resources
  • News expand submenu for News
    • In The Spotlight
    • News Archive
    • Connect with GARD
    • Media Requests
  • About GARD expand submenu for About GARD
    • Contact GARD
    • About GARD
    • Videos
    • Brochures and Publications
  • En Español expand submenu for En Español
    • Enfermedades
    • Contacte GARD
    • Guías de Información expand submenu for Guías de Información
      • Preguntas Más Frecuentes Sobre Enfermedades Raras
      • Como Encontrar un Especialista en su Enfermedad
      • Consejos Para una Condición no Diagnosticada
      • Consejos Para Pacientes y Familias
      • Consejos Para Obtener Ayuda Financiera Para Una Enfermedad
      • Participe en Estudios de Investigación
      • Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos
    • Sobre GARD
  • Home
© Positive Exposure
banner showing people with disabilities and/or their relatives
  1. Home
  2. Diseases
  3. Greig cephalopolysyndactyly syndrome
print
  • Table of Contents expand submenu for Table of Contents
    • Summary
    • Symptoms
    • Cause
    • Inheritance
    • Diagnosis
    • Treatment
    • Find a Specialist
    • Related Diseases
    • Organizations
    • Learn More
    • GARD Answers
    • References
  • Browse A-Z
  • Find Diseases By Category expand submenu for Find Diseases By Category
    • Autoimmune / Autoinflammatory diseases
    • Bacterial infections
    • Behavioral and mental disorders
    • Blood Diseases
    • Chromosome Disorders
    • Congenital and Genetic Diseases
    • Connective tissue diseases
    • Digestive Diseases
    • Ear, Nose, and Throat Diseases
    • Endocrine Diseases
    • Environmental Diseases
    • Eye diseases
    • Female Reproductive Diseases
    • Fungal infections
    • Heart Diseases
    • Hereditary Cancer Syndromes
    • Immune System Diseases
    • Kidney and Urinary Diseases
    • Lung Diseases
    • Male Reproductive Diseases
    • Metabolic disorders
    • Mouth Diseases
    • Musculoskeletal Diseases
    • Myelodysplastic Syndromes
    • Nervous System Diseases
    • Newborn Screening
    • Nutritional diseases
    • Parasitic diseases
    • Rare Cancers
    • RDCRN
    • Skin Diseases
    • Viral infections
  • List of FDA Orphan Drugs
  • GARD Information Navigator
  • FAQs About Rare Diseases
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

Greig cephalopolysyndactyly syndrome


Title


How can we make GARD better? We want to hear from you.
Provide Feedback

Other Names:
GCPS; Greig syndrome; Polysyndactyly with peculiar skull shape
Categories:
Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary Summary


Listen
Greig cephalopolysyndactyly syndrome (GCPS) is a congenital disorder that affects development of the limbs, head, and face. Findings might include an extra finger or toe (polydactyly), fusion of the skin between the fingers or toes (syndactyly), widely spaced eyes (ocular hypertelorism), and an abnormally large head size (macrocephaly).[1]The features of this syndrome are highly variable, ranging from polydactyly and syndactyly of the upper and/or lower limbs to seizure, hydrocephalus , and intellectual disability. Progression of GCPS is dependent on severity. Greig cephalopolysyndactyly syndrome is caused by mutations in the GLI3 gene. This condition is inherited in an autosomal dominant pattern. Treatment is symptomatic.[2]
Last updated: 12/10/2015

Symptoms Symptoms


Listen
The symptoms of Greig cephalopolysyndactyly syndrome (GCPS) are highly variable, ranging from mild to severe. People with this condition typically have limb anomalies, which may include one or more extra fingers or toes (polydactyly), an abnormally wide thumb or big toe (hallux), and the skin between the fingers and toes may be fused (cutaneous syndactyly). This disorder is also characterized by widely spaced eyes (ocular hypertelorism), an abnormally large head size (macrocephaly), and a high, prominent forehead. Rarely, affected individuals may have more serious medical problems including seizures, developmental delay, and intellectual disability.[1]
Last updated: 12/15/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 41 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Macrocephaly
Increased size of skull
Large head circumference
Large head
[ more ]
0000256
Postaxial hand polydactyly
Extra pinky finger
Extra pinkie finger
Extra little finger
[ more ]
0001162
Preaxial foot polydactyly 0001841
30%-79% of people have these symptoms
3-4 finger syndactyly
Webbed 3rd-4th fingers
0006097
Accelerated skeletal maturation
Early bone maturation
Advanced bone age
[ more ]
0005616
Broad hallux phalanx
Broad bone of big toe
Wide bone of big toe
[ more ]
0010059
Broad thumb
Broad thumbs
Wide/broad thumb
[ more ]
0011304
Finger syndactyly 0006101
Frontal bossing 0002007
High forehead 0000348
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ]
0000316
Telecanthus
Corners of eye widely separated
0000506
Toe syndactyly
Fused toes
Webbed toes
[ more ]
0001770
Wide nasal bridge
Increased width of nasal bridge
Increased width of bridge of nose
Increased breadth of nasal bridge
Increased breadth of bridge of nose
Broadened nasal bridge
Broad nasal root
Broad nasal bridge
Widened nasal bridge
Wide bridge of nose
Nasal bridge broad
[ more ]
0000431
5%-29% of people have these symptoms
Abnormal heart morphology
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ]
0001627
Abnormal muscle fiber morphology 0004303
Agenesis of corpus callosum 0001274
Camptodactyly of toe 0001836
Congenital diaphragmatic hernia 0000776
Craniosynostosis 0001363
Cryptorchidism
Undescended testes
Undescended testis
[ more ]
0000028
Delayed cranial suture closure 0000270
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Hirsutism
Excessive hairiness
0001007
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hyperglycemia
High blood sugar
0003074
Hypospadias 0000047
Inguinal hernia 0000023
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
0001256
Joint contracture of the hand 0009473
Metopic synostosis 0011330
Postaxial foot polydactyly
Extra toe attached near the little toe
0001830
Preaxial hand polydactyly
Extra thumb
0001177
Seizure 0001250
Umbilical hernia 0001537
1%-4% of people have these symptoms
1-3 toe syndactyly
Webbed 1st-3rd toes
0001459
Broad hallux
Broad big toe
Wide big toe
[ more ]
0010055
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Scaphocephaly 0030799
Trigonocephaly
Triangular skull shape
Wedge shaped skull
[ more ]
0000243
Variable expressivity 0003828
Showing of 41 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
Do you have updated information on this disease? We want to hear from you.

Cause Cause


Listen
Mutations in the GLI3 gene cause Greig cephalopolysyndactyly syndrome (GCPS). The GLI3 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.[1]

Different genetic changes involving the GLI3 gene can cause GCPS. In some cases, the condition results from a chromosome 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 remains unclear how a reduced amount of this protein disrupts early development and causes the characteristic features of GCPS.[1]

Last updated: 12/15/2015

Inheritance Inheritance


Listen
Greig cephalopolysyndactyly syndrome (GCPS) is often inherited in an autosomal dominant pattern. This means that to be affected, a person only needs a change (mutation) in one copy of the GLI3 gene in each cell. In some cases, an affected person inherits a gene mutation or chromosomal abnormality from one affected parent. Other cases occur in people with no history of the condition in their family. A person with GCPS syndrome has a 50% chance with each pregnancy of passing the altered gene to his or her child.[1]
Last updated: 12/16/2015

Diagnosis Diagnosis


Listen
Yes. GLI3 is the only gene known to be associated with Greig cephalopolysyndactyly syndrome (GCPS). Genetic testing is available to analyze the GLI3 gene for mutations. Mutations involving GLI3 can be identified in greater than 75% of people with GCPS.[2]
Last updated: 12/16/2015

Greig cephalopolysyndactyly syndrome (GCPS) is diagnosed based on clinical findings and family history. Major findings of GCPS include:
  • an abnormally large head size (macrocephaly) greater than the 97th percentile
  • widely spaced eyes (ocular hypertelorism)
  • limb anomalies including extra fingers or toes (polydactyly)
  • fused skin between the fingers and toes (cutaneous syndactyly)

  • A diagnosis is established in a first degree relative of a known affected individual if that person has polydactyly with or without syndactyly or craniofacial features (macrocephaly, widely spaced eyes). A diagnosis is additionally established in a person who has features of GCPS and a mutation in the GLI3 gene.[2]
    Last updated: 12/16/2015

    Testing Resources

    • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment Treatment


    Listen
    Treatment for Greig cephalopolysyndactyly syndrome (GCPS) is symptomatic. Treatment might include elective surgical repair of polydactyly. Evaluation and treatment of hydrocephalus might additionally occur if hydrocephalus is present.[2] 

    Hydrocephalus is a condition characterized by excessive accumulation of fluid in the brain. This fluid is cerebrospinal fluid (CSF) - a clear fluid that surrounds the brain and spinal cord. Excess CSF builds up when it cannot drain from the brain due to a blockage in a passage through which the fluid normally flows. This excess fluid causes an abnormal widening of spaces in the brain called ventricles; this can create harmful pressure on brain tissue.[3]

    Treatment of hydrocephalus often includes surgical insertion of a shunt system-in which a catheters (tubes) are surgically placed behind both ears. A valve (fluid pump) is placed underneath the skin behind the ear and is connected to both catheters. When extra pressure builds up around the brain, the valve opens, and excess fluid drains through the catheter. This helps lower pressure within the skull (intracranial pressure).[4]
    Last updated: 12/16/2015

    Find a Specialist Find a Specialist


    Listen

    If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

    If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

    You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

    Healthcare Resources

    • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

    Related Diseases Related Diseases


    Listen

    Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

    Conditions with similar signs and symptoms from Orphanet
    Differential diagnoses include preaxial polydactyly type 4, the GCPS contiguous gene syndrome, acrocallosal syndrome, Gorlin syndrome, Carpenter syndrome, and Teebi syndrome. The disorder is allelic to Pallister-Hall syndrome and one form of the acrocallosal syndrome.
    Visit the Orphanet disease page for more information.

    Organizations Organizations


    Listen

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

    • Children's Craniofacial Association
      13140 Coit Road Suite 517
      Dallas, TX 75240
      Toll-free: 1-800-535-3643
      Telephone: +1-214-570-9099
      Fax: +1-214-570-8811
      E-mail: contactCCA@ccakids.com
      Website: https://ccakids.org/
    • FACES: The National Craniofacial Association
      PO Box 11082
      Chattanooga, TN 37401
      Toll-free: 800-332-2373
      Telephone: 423-266-1632
      E-mail: faces@faces-cranio.org
      Website: http://www.faces-cranio.org/
    • Let's Face It
      University of Michigan School of Dentistry Dentistry Library
      1011 North University
      Ann Arbor, MI 48109-1078
      E-mail: faceit@umich.edu
      Website: http://media.dent.umich.edu/faceit/info/
      This website does not appear to be actively updated any longer. However the information and resources may be helpful.
    • World Craniofacial Foundation
      P.O. Box 515838
      Dallas, TX 75251-5838
      Toll-free: 800-533-3315
      Telephone: 972-566-6669
      Fax: 972-566-3850
      E-mail: info@worldcf.org
      Website: http://www.worldcf.org/
    Do you know of an organization? We want to hear from you.

    Learn More Learn More


    Listen

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • Genetics Home Reference (GHR) contains information on Greig cephalopolysyndactyly syndrome. This website is maintained by the National Library of Medicine.
    • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

    In-Depth Information

    • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
    • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
    • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Greig cephalopolysyndactyly syndrome. Click on the link to view a sample search on this topic.

    GARD Answers GARD Answers


    Listen

    Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

    Have a question? Contact a GARD Information Specialist.

    References References


    1. Greig cephalopolysyndactyly syndrome. Genetics Home Reference (GHR). 2006; http://ghr.nlm.nih.gov/condition/greig-cephalopolysyndactyly-syndrome. Accessed 12/10/2015.
    2. Leslie G Biesecker, MD. Greig Cephalopolysyndactyly Syndrome. GeneReviews. 6/19/2014; http://www.ncbi.nlm.nih.gov/books/NBK1446/. Accessed 12/10/2015.
    3. Hydrocephalus Fact Sheet. NINDS. July 27, 2015; http://www.ninds.nih.gov/disorders/hydrocephalus/detail_hydrocephalus.htm. Accessed 12/16/2015.
    4. Ventriculoperitoneal shunting. MedlinePlus. 10/29/2013; https://www.nlm.nih.gov/medlineplus/ency/article/003019.htm. Accessed 12/16/2015.
    Do you know of a review article? We want to hear from you.
    You can help advance
    rare disease research!
    You can help advance rare disease research!
    toolbox
    Find out how with the NCATS Toolkit.

    Share this content:

    Share this content:

    twitter-icon facebook-icon contact-icon link-icons

    Copy Link

    Link copied to your clipboard.

    printer-icon

    You May Be Interested In

    How to Find a Disease Specialist

    How to Find a Disease Specialist

    Tips for the Undiagnosed

    Tips for the Undiagnosed

    Support for Patients and Families

    Support for Patients and Families

    Tips for Finding Financial Aid

    Tips for Finding Financial Aid

    Help with Travel Costs

    Help with Travel Costs

    How to Get Involved in Research

    How to Get Involved in Research

    FAQs About Chromosome Disorders

    FAQs About Chromosome Disorders

    Medical and Science Glossaries

    Medical and Science Glossaries

    Caring for Your Patient with a Rare Disease

    Caring for Your Patient with a Rare Disease

    ICD Coding for Rare Diseases

    ICD Coding for Rare Diseases

    FindZebra Diagnosis Assist Tool

    FindZebra Diagnosis Assist Tool

    Finding Funding Opportunities

    Finding Funding Opportunities

    Teaching Resources

    Teaching Resources

    placeholder for the horizontal scroll slider Back to top
    GARD Home NCATS Home Site Map Browse Glossary A-Z Privacy Notice Disclaimer Accessibility FOIA OIG

    If you have problems viewing PDF files, download the latest version of Adobe Reader

    For language access assistance, contact the NCATS Public Information Officer

    Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311

    contact gard Office of Rare Disease Research Facebook Page Office of Rare Disease Research on Twitter
    Listen