Question: What are the symptoms of Leri pleonosteosis ?
Answer: What are the signs and symptoms of Leri pleonosteosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Leri pleonosteosis. 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 epiphysis morphology 90% Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Brachydactyly syndrome 90% Camptodactyly of finger 90% Genu recurvatum 90% Lack of skin elasticity 90% Limitation of joint mobility 90% Short stature 90% Thickened skin 90% Upslanted palpebral fissure 90% Abnormally straight spine 50% Blepharophimosis 50% Cubitus valgus 50% Scoliosis 50% Elbow dislocation 7.5% Strabismus 7.5% Microcornea 5% Abnormality of the carpal bones - Abnormality of the vertebral column - Autosomal dominant inheritance - Broad metacarpals - Broad thumb - Enlarged interphalangeal joints - Hallux valgus - Joint stiffness - Laryngeal stenosis - Pes cavus - Short metacarpal - Short metatarsal - Short palm - Short stepped shuffling gait - Short thumb - 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