Question: What are the symptoms of 49,XXXXX syndrome ?
Answer: What are the signs and symptoms of 49,XXXXX syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 49,XXXXX 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) Abnormality of chromosome segregation 90% Low-set, posteriorly rotated ears 90% Muscular hypotonia 90% Abnormality of the nose 50% Camptodactyly of finger 50% Clinodactyly of the 5th finger 50% Cognitive impairment 50% Hypertelorism 50% Microcephaly 50% Plagiocephaly 50% Radioulnar synostosis 50% Short foot 50% Short palm 50% Short stature 50% Strabismus 50% Upslanted palpebral fissure 50% Abnormality of immune system physiology 7.5% Abnormality of the cardiac septa 7.5% Abnormality of the genital system 7.5% Abnormality of the hip bone 7.5% Abnormality of the urinary system 7.5% Patent ductus arteriosus 7.5% 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