Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder characterized by physical abnormalities affecting the fingers and toes (digits) and the. A number sign (#) is used with this entry because of evidence that Greig cephalopolysyndactyly syndrome (GCPS) is caused by heterozygous mutation in the. The Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of.
|Published (Last):||18 July 2009|
|PDF File Size:||13.75 Mb|
|ePub File Size:||9.19 Mb|
|Price:||Free* [*Free Regsitration Required]|
GCPS, a rare genetic disorder that is present at birth congenitalis characterized by abnormalities of the fingers and toes digits and the head and facial craniofacial area.
The range and severity of symptoms vary from individual to individual, with the facial characteristics, in particular, being quite subtle in some individuals.
The extra digit can be a complete digit or a non-functional incomplete digit. The degree of digital fusion may also vary from the skin only joining part of the distance to the fingertip to the skin being joined all the way to the tip of the finger. In some cases, only the soft tissue is fused, but in others, the bone or boney cartilage may be fused.
In some cases, the fibrous joints sutures between certain bones in the skull may be abnormally wide and may close unusually late in development; on the other hand, in rare individuals, certain cranial sutures may close prematurely craniosynostosis.
Such irregular closure of the sutures may cause the head to appear unusually shaped scaphocephaly, trigonencephaly, or plagiocephaly. In many individuals with GCPS, additional abnormalities may be present.
In most individuals with the severe form of the disorder, it is caused by a deletion of the entire GLI3 gene. The larger the deletion encompassing GLI3 gene is greater than kbthe more likely the individual will show these uncommon symptoms. GCPS is inherited in an autosomal dominant pattern. Most genetic diseases are determined by the status of the two copies of a gene, one received from the father and one from the mother.
Disorders inherited in a dominant pattern occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation gene change in the affected individual. Most of the variants in GLI3 that cause the disorder are single nucleotide changes, deletions or insertions.
Rare Disease Database
Less commonly, patients have larger insertions or deletions of the gene. GCPS affects males and females in equal numbers. There have been over patients with this disorder reported in the medical literature. Therefore, it is difficult to determine the true frequency of GCPS in the general population.
Symptoms of the following disorders can be similar to those of Greig cephalopolysyndactyly syndrome. Comparisons may be useful for a differential diagnosis. Additional symptoms can include absence agenesis of the nerve fibers that connects the two halves of the brain corpus callosumintellectual disability, and digital abnormalities including extra fingers and toes polydactyly. ACLS is typically inherited in an autosomal recessive pattern. Oro-facial-digital syndrome is a rare genetic disorder in which there have been many types identified.
Pfeiffer syndrome acrocephalosyndactyly type V is generally accepted to be the same condition as Noack syndrome acrocephalopolysyndactyly type I.
Greig cephalopolysyndactyly syndrome
Affected individuals may exhibit several bone abnormalities of the face and head craniofacial dysostosisincluding a short, pointed head acrobrachycephaly and widely spaced eyes ocular hypertelorism.
Several abnormalities of the jaws and teeth may also be present, including an cephalopooysyndactyly upper jawbone maxillary hypoplasiahighly arched palate, prominent lower jaw prognathismand improper alignment of the teeth malocclusion when the jaws close. Additional physical abnormalities may be present in some patients.
Pfeiffer syndrome is inherited in an autosomal dominant pattern. GCPS is usually diagnosed at birth based upon a thorough clinical evaluation; identification of characteristic physical findings; and specialized imaging procedures, including X-rays and computed tomography CT scanning.
During ultrasonography, reflected sound waves create images of the developing fetus. There are cephalopolydyndactyly prenatal testing methods available, such as analyzing the fetal cells. X-rays and CT scanning may be used to detect and reveal the extent of bone fusion in severe occurrences of osseous syndactyly.
Macrocephaly is defined as a head circumference greater than the 97th centile compared to appropriate age and sex standards. In addition, if the distance between the pupils is greater than the 97th centile compared to appropriate age and sex standards, then the individual has widely spaced eyes that can be considered as GCPS feature.
Two conditions must be considered prior to diagnostic testing: Cephalopolhsyndactyly the clinical features cephwlopolysyndactyly with GCPS are confirmed through X-rays and CT scansindividuals without significant developmental delay or intellectual disability should have genetic testing through sequence analysis. If the individual does have developmental delay or intellectual disability, he or she should have either comparative genomic hybridization or SNP-array to detect possible copy number changes in the GLI3 gene.
Treatment The treatment of GCPS is directed toward the cephalopolhsyndactyly symptoms apparent in each individual. Craniofacial reconstructive surgery for GCPS is not common since the widely spaced eyes and macrocephaly are not sufficiently severe enough to warrant surgery. Specific therapies for the treatment of this disorder are symptomatic and supportive. Genetic counseling is recommended for affected individuals and their families.
Information on current clinical trials is posted on the Internet at www. All studies receiving U.
Greig Cephalopolysyndactyly Syndrome – NORD (National Organization for Rare Disorders)
Some current clinical trials also are posted on the following page on the NORD website: For information about clinical trials sponsored by private sources, contact: For information about clinical trials conducted in Europe, contact: Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.
Gorlin RJ, et al. Syndromes of the Head and Neck, 3rd ed. Oxford University Press; Blackwell Scientific Publications; For: A de novo GLI3 mutation in a patient with acrocallosal syndrome.
Am J Med Genet A. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. The Greig cephalopolysyndactyly syndrome. Orphanet J Rare Dis. A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly.
Greig Cephalopolysyndactyly Syndrome – GeneReviews® – NCBI Bookshelf
Johnston JJ, et al. Molecular and clinical aspects of Greig cephalopolysyndactyly and Pallister-Hall syndromes: Am J Med Genet. Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. Debeer P, et al. Variable phenotype in Greig cephalopolysyndactyly syndrome: De novo GLI3 mutation in acrocallosal syndrome: Spectrum of the syndgome syndrome.
Phenotype of five patients with Greig syndrome and microdeletion of 7p The sonic hedgehog-patched-gli pathway in human development and disease. Am J Hum Genet. Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.
GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Point mutations in human GLI3 cause Greig syndrome. Ausems MG, et al. Greig cephalopolysyndactyly syndrome in a large family: Vortkamp A, et al. Isolation of a yeast artificial chromosome contig spanning the Greig cephalopolysyndactyly syndrome GCPS gene region.
Fryns JP, et al. Apparent Greig cephalopolysyndactyly and sinus node disease. GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families. Gemmill RM, et al. University of Washington, Seattle; The content of the website and databases of the National Organization for Rare Disorders NORD is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD.
About News Events Contact. General Discussion Greig cephalopolysyndactyly syndrome GCPS is a rare genetic disorder characterized by physical abnormalities affecting the fingers and toes digits and the head and facial craniofacial area.
The range and severity of symptoms may vary greatly among affected individuals. In most cases, GCPS is inherited in an autosomal dominant pattern. Causes GCPS is inherited in an autosomal dominant pattern.
Related Disorders Symptoms of the following disorders can be similar to those of Greig cephalopolysyndactyly syndrome. Diagnosis GCPS is usually diagnosed at birth based upon a thorough clinical evaluation; identification of characteristic physical findings; and specialized imaging procedures, including X-rays and computed tomography CT scanning. Investigational Therapies Information on current clinical trials is posted on the Internet at www.
Resources Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e. Years Published, Alone we are rare.
Together we are strong.