Question: What are the symptoms of Metaphyseal chondrodysplasia Spahr type ?
Answer: What are the signs and symptoms of Metaphyseal chondrodysplasia Spahr type? The Human Phenotype Ontology provides the following list of signs and symptoms for Metaphyseal chondrodysplasia Spahr type. 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 the hip bone 90% Delayed skeletal maturation 90% Gait disturbance 90% Genu varum 90% Hyperlordosis 90% Reduced bone mineral density 90% Short stature 90% Abnormality of epiphysis morphology 50% Carious teeth 50% Scoliosis 50% Abnormality of the head - Autosomal recessive inheritance - Disproportionate short stature - Genu valgum - Metaphyseal chondrodysplasia - Metaphyseal sclerosis - Metaphyseal widening - Motor delay - Progressive leg bowing - Short lower limbs - Waddling gait - 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