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.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
Increased size of skull
Large head circumference[ more ]
|Postaxial hand polydactyly||
Extra pinky finger
Extra pinkie finger
Extra little finger[ more ]
|Preaxial foot polydactyly||0001841|
|30%-79% of people have these symptoms|
|3-4 finger syndactyly||
Webbed 3rd-4th fingers
|Accelerated skeletal maturation||
Early bone maturation
Advanced bone age[ more ]
|Broad hallux phalanx||
Broad bone of big toe
Wide bone of big toe[ more ]
Broad thumbs[ more ]
Widely spaced eyes[ more ]
Corners of eye widely separated
Webbed toes[ more ]
|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 ]
|5%-29% of people have these symptoms|
|Abnormal heart morphology||
Abnormality of the heart
Abnormally shaped heart[ more ]
|Abnormal muscle fiber morphology||0004303|
|Camptodactyly of toe||0001836|
Undescended testis[ more ]
|Delayed cranial suture closure||0000270|
|Downslanted palpebral fissures||
Downward slanting of the opening between the eyelids
Too much cerebrospinal fluid in the brain
High blood sugar
|Intellectual disability, mild||
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation[ more ]
|Postaxial foot polydactyly||
Extra toe attached near the little toe
|Preaxial hand polydactyly||
|1%-4% of people have these symptoms|
|1-3 toe syndactyly||
Webbed 1st-3rd toes
Broad big toe
Wide big toe[ more ]
|Percent of people who have these symptoms is not available through HPO|
Triangular skull shape
Wedge shaped skull[ more ]
Different genetic changes involving the GLI3 gene can cause GCPS. In some cases, the condition results from a
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.
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 (see these terms). The disorder is allelic to Pallister-Hall syndrome and one form of the acrocallosal syndrome.
Visit the Orphanet disease page for more information.
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.
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.
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.