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Disease Profile
Greig cephalopolysyndactyly syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Antenatal
ICD-10
Q87.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
GCPS; Greig syndrome; Polysyndactyly with peculiar skull shape
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Greig cephalopolysyndactyly
Symptoms
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 |
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 |
Broad nasal bridge
Increased breadth of nasal bridge
Increased breadth of bridge of nose
Broadened nasal bridge
Broad nasal root
Widened nasal bridge
Wide bridge of nose
Nasal bridge broad
Increased width of nasal bridge
Increased width of bridge of nose
[ 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 |
0001274 | |
Camptodactyly of toe | 0001836 | |
0000776 | ||
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 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hyperglycemia |
High blood sugar
|
0003074 |
Hypospadias | 0000047 | |
Inguinal hernia | 0000023 | |
Intellectual disability, mild |
Mild mental retardation
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
[ more ] |
0001256 |
Joint |
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 | ||
0000006 | ||
Scaphocephaly | 0030799 | |
Trigonocephaly |
Triangular skull shape
Wedge shaped skull
[ more ] |
0000243 |
0003828 |
Cause
Different genetic changes involving the GLI3 gene can cause GCPS. In some cases, the condition results from a
Diagnosis
A diagnosis is established in a
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
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
Treatment of hydrocephalus often includes surgical
Related diseases
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
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: [email protected]
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: [email protected]
Website: https://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: [email protected]
Website: https://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: [email protected]
Website: https://www.worldcf.org/
Learn more
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.
References
- Greig cephalopolysyndactyly syndrome. Genetics Home Reference (GHR). 2006; https://ghr.nlm.nih.gov/condition/greig-cephalopolysyndactyly-syndrome. Accessed 12/10/2015.
- Leslie G Biesecker, MD. Greig Cephalopolysyndactyly Syndrome. GeneReviews. 6/19/2014; https://www.ncbi.nlm.nih.gov/books/NBK1446/. Accessed 12/10/2015.
- Hydrocephalus Fact Sheet. NINDS. July 27, 2015; https://www.ninds.nih.gov/disorders/hydrocephalus/detail_hydrocephalus.htm. Accessed 12/16/2015.
- Ventriculoperitoneal shunting. MedlinePlus. 10/29/2013; https://www.nlm.nih.gov/medlineplus/ency/article/003019.htm. Accessed 12/16/2015.
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