Question: What are the symptoms of PHAVER syndrome ?
Answer: What are the signs and symptoms of PHAVER syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PHAVER 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) Abnormal form of the vertebral bodies 90% Abnormality of the ribs 90% Amniotic constriction ring 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Pterygium 90% Ulnar deviation of finger 90% Ventricular septal defect 90% Vertebral segmentation defect 90% Abnormality of the aorta 50% Abnormality of the pulmonary artery 50% Aplasia/Hypoplasia of the earlobes 50% Aplasia/Hypoplasia of the thumb 50% Atria septal defect 50% Camptodactyly of finger 50% Conductive hearing impairment 50% Depressed nasal bridge 50% Epicanthus 50% Limitation of joint mobility 50% Myelomeningocele 50% Overfolded helix 50% Preaxial foot polydactyly 50% Radioulnar synostosis 50% Triphalangeal thumb 50% 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