Question: What is (are) Greig cephalopolysyndactyly syndrome ?
Answer: 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).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.
Source: GARD

Question: What are the symptoms of Greig cephalopolysyndactyly syndrome ?
Answer: What are the signs and symptoms of Greig cephalopolysyndactyly syndrome? 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. The Human Phenotype Ontology provides the following list of signs and symptoms for Greig cephalopolysyndactyly syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) 1-3 toe syndactyly 90% Macrocephaly 90% Postaxial hand polydactyly 90% Preaxial foot polydactyly 90% Broad hallux 89% Wide nasal bridge 79% High forehead 70% Frontal bossing 58% Abnormality of the nose 50% Accelerated skeletal maturation 50% Finger syndactyly 50% Hypertelorism 50% Telecanthus 50% Toe syndactyly 50% 3-4 finger syndactyly 33% Broad hallux phalanx 33% Broad thumb 33% Abnormal heart morphology 7.5% Abnormality of muscle fibers 7.5% Agenesis of corpus callosum 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Camptodactyly of toe 7.5% Cognitive impairment 7.5% Congenital diaphragmatic hernia 7.5% Craniosynostosis 7.5% Cryptorchidism 7.5% Delayed cranial suture closure 7.5% Hirsutism 7.5% Hydrocephalus 7.5% Hyperglycemia 7.5% Hypospadias 7.5% Inguinal hernia 7.5% Intellectual disability, mild 7.5% Joint contracture of the hand 7.5% Postaxial foot polydactyly 7.5% Preaxial hand polydactyly 7.5% Seizures 7.5% Umbilical hernia 7.5% Metopic synostosis 5% Autosomal dominant inheritance - Dolichocephaly - Trigonocephaly - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: What causes Greig cephalopolysyndactyly syndrome ?
Answer: What causes Greig cephalopolysyndactyly syndrome? 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. Different genetic changes involving the GLI3 gene can cause GCPS. In some cases, the condition results from a chromosome abnormalitysuch as a large deletion or rearrangement of genetic materialin 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.
Source: GARD

Question: What are the treatments for Greig cephalopolysyndactyly syndrome ?
Answer: How might Greig cephalopolysyndactyly syndrome be treated? 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. 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. 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).
Source: GARD