Question: What are the symptoms of Fibular hypoplasia and complex brachydactyly ?
Answer: What are the signs and symptoms of Fibular hypoplasia and complex brachydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Fibular hypoplasia and complex brachydactyly. 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 epiphysis morphology 90% Abnormality of the hip bone 90% Abnormality of the thumb 90% Abnormality of the tibia 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the radius 90% Brachydactyly syndrome 90% Fibular aplasia 90% Limitation of joint mobility 90% Micromelia 90% Narrow nasal bridge 90% Short stature 90% Single transverse palmar crease 90% Synostosis of carpal bones 90% Tarsal synostosis 90% Absent toe 50% Deformed tarsal bones 50% Deviation of finger 50% Malaligned carpal bone 50% Patellar dislocation 50% Short metacarpal 50% Short metatarsal 50% Short phalanx of finger 50% Small nail 50% Rhizomelia 33% Talipes equinovalgus 33% Aplastic/hypoplastic toenail - Autosomal recessive inheritance - Fibular hypoplasia - 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