Question: What is (are) Progressive pseudorheumatoid arthropathy of childhood ?
Answer: Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a disorder of bone and cartilage that affects many joints. Major signs and symptoms include stiff joints (contractures), short stature, and widening of the ends of the finger and toe bones as well as other tubular bones. PPAC may initially be mistaken for juvenile rheumatoid arthritis, however people with this condition do not have the laboratory test results of juvenile rheumatoid arthritis. PPAC is caused by a mutation in the WISP3 gene and is inherited in an autosomal recessive pattern. People with PPAC typically need joint replacement surgery at an early age. Other forms of spondyloepiphyseal dysplasia tarda include: X-linked spondyloepiphyseal dysplasia tarda Autosomal dominant spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia tarda Toledo type
Source: GARD

Question: What are the symptoms of Progressive pseudorheumatoid arthropathy of childhood ?
Answer: What are the signs and symptoms of Progressive pseudorheumatoid arthropathy of childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive pseudorheumatoid arthropathy of childhood. 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% Limitation of joint mobility 90% Short stature 90% Abnormal form of the vertebral bodies 50% Abnormality of the knees 50% Kyphosis 50% Osteoarthritis 50% Scoliosis 50% Abnormality of the foot - Arthropathy - Autosomal recessive inheritance - Camptodactyly of finger - Coxa vara - Decreased cervical spine mobility - Difficulty walking - Enlarged epiphyses - Enlarged interphalangeal joints - Enlarged metacarpophalangeal joints - Enlargement of the proximal femoral epiphysis - Flattened epiphysis - Genu varum - Joint stiffness - Joint swelling - Kyphoscoliosis - Metaphyseal widening - Muscle weakness - Osteoporosis - Platyspondyly - Sclerotic vertebral endplates - 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