Question: What are the symptoms of Hardikar syndrome ?
Answer: What are the signs and symptoms of Hardikar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hardikar 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 retinal pigmentation 90% Abnormality of the cardiovascular system 90% Abnormality of the ureter 90% Cleft palate 90% Extrahepatic biliary duct atresia 90% Non-midline cleft lip 90% Chorioretinal degeneration 5% Blepharophimosis - Cholangitis - Cleft upper lip - Coarctation of aorta - Congenital onset - Elevated hepatic transaminases - Failure to thrive - Growth delay - Hepatomegaly - Hydronephrosis - Hydroureter - Hyperbilirubinemia - Intestinal malrotation - Jaundice - Patent ductus arteriosus - Patent foramen ovale - Pigmentary retinopathy - Portal hypertension - Pruritus - Pulmonary artery stenosis - Recurrent urinary tract infections - Splenomegaly - Sporadic - Ureteral stenosis - Vaginal atresia - Ventricular septal defect - Vesicoureteral reflux - 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