Question: What are the symptoms of Schizencephaly ?
Answer: What are the signs and symptoms of Schizencephaly? Signs and symptoms of schizencephaly may include: Developmental delay Seizures Abnormally small head (microcephaly) Intellectual disability Partial or complete paralysis Poor muscle tone (hypotonia) Hydrocephalus Severity of symptoms depends on many factors, including the extent of the clefting and whether or not other brain abnormalities are present. For example, people with a small cleft in one hemisphere may have paralysis on one side of the body and little to no intellectual disability, while clefts in both hemispheres can lead to quadriplegia (paralysis of both arms and legs) and severe intellectual disability. The Human Phenotype Ontology provides the following list of signs and symptoms for Schizencephaly. 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) Aplasia/Hypoplasia of the corpus callosum 90% EEG abnormality 90% Hypertonia 90% Porencephaly 90% Strabismus 90% Cognitive impairment 50% Hemiplegia/hemiparesis 50% Seizures 50% Schizencephaly - 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