Topic: Greig cephalopolysyndactyly syndrome
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)