Question: What are the symptoms of Renal dysplasia-limb defects syndrome ?
Answer: What are the signs and symptoms of Renal dysplasia-limb defects syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal dysplasia-limb defects 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 fibula 90% Abnormality of the palate 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the lungs 90% Aplasia/Hypoplasia of the radius 90% Convex nasal ridge 90% Intrauterine growth retardation 90% Micromelia 90% Multicystic kidney dysplasia 90% Narrow mouth 90% Oligohydramnios 90% Respiratory insufficiency 90% Short stature 90% Talipes 90% Abnormality of the ribs 50% Aplasia/Hypoplasia of the cerebellum 50% Cleft upper lip 50% Humeroradial synostosis 50% Renal hypoplasia/aplasia 50% Short neck 50% Abnormality of the pinna - Absent ulna - Autosomal recessive inheritance - Clitoral hypertrophy - Cryptorchidism - Depressed nasal bridge - Fibular aplasia - High palate - Hypoplasia of the radius - Low-set ears - Maternal diabetes - Neonatal death - Phocomelia - Pneumothorax - Prominent occiput - Pulmonary hypoplasia - Renal dysplasia - Renal hypoplasia - Respiratory distress - Respiratory failure - Short metacarpal - Short ribs - Short sternum - Single umbilical artery - Talipes equinovarus - Thin ribs - Thin vermilion border - 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