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Disease Profile
Progressive pseudorheumatoid dysplasia
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000
Age of onset
Childhood
ICD-10
Q77.7
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; Progressive pseudorheumatoid arthropathy of childhood; PPAC;
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Progressive pseudorheumatoid disyplasia (PPD) is a disorder of bone and cartilage that affects many joints. It manifests between the age of 3 and 6 years with joint pain and progressive joint stiffness. Major signs and symptoms include stiff joints (
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
| Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
| Methylmalonic acidemia | 0002912 | |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| 30%-79% of people have these symptoms | ||
| Abnormality of the knee | 0002815 | |
| Enlarged interphalangeal joints |
Enlarged hinge joints
|
0006247 |
| Flattened epiphysis |
Flat end part of bone
|
0003071 |
| Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
| Osteoarthritis |
Degenerative joint disease
|
0002758 |
| Sclerotic vertebral endplates | 0004576 | |
| 0002650 | ||
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal foot morphology |
Abnormal feet structure
Abnormality of the feet
Abnormality of the foot
Foot deformities
Foot deformity
[ more ] |
0001760 |
| Arthropathy |
Disease of the joints
|
0003040 |
| 0000007 | ||
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Coxa vara | 0002812 | |
| Decreased cervical spine mobility |
Limited neck movement
|
0004637 |
| Difficulty walking |
Difficulty in walking
|
0002355 |
| Enlarged epiphyses |
Large end part of bone
|
0010580 |
| Enlarged metacarpophalangeal joints | 0006163 | |
| Enlargement of the proximal femoral epiphysis |
Enlarged end part of innermost thighbone
|
0003371 |
| Genu varum |
Outward bow-leggedness
Outward bowing at knees
[ more ] |
0002970 |
| Joint swelling | 0001386 | |
| Kyphoscoliosis | 0002751 | |
| Metaphyseal widening |
Broad wide portion of long bone
|
0003016 |
| Muscle weakness |
Muscular weakness
|
0001324 |
| 0000939 | ||
| Platyspondyly |
Flattened vertebrae
|
0000926 |
| Waddling gait |
'Waddling' gait
Waddling walk
[ more ] |
0002515 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
- Orphanet lists international laboratories offering diagnostic testing for this condition.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
PPAC can be initially misdiagnosed as juvenile rheumatoid arthritis but is distinguished on radiographic analysis (especially the platyspondyly and generalised epiphyseal dysplasia) and the absence of inflammatory joint disease. PPAC must be differentiated from juvenile idiopathic arthritis to ensure optimal treatment and to avoid unnecessary exposure to immunosuppressants.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Arthritis Foundation
1355 Peachtree St. NE
6th Floor
Atlanta, GA 30309
Toll-free: 1-844-571-HELP (4357)
Telephone: +1-404-872-7100
Website: https://www.arthritis.org
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- Genetics Home Reference contains information on Progressive pseudorheumatoid dysplasia. This website is maintained by the National Library of Medicine.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Progressive pseudorheumatoid dysplasia. Click on the link to view a sample search on this topic.
- Medscape Reference has information on spondyloepiphyseal dysplasia in general. You may need to register to view this medical reference, but registration is free.
References
- Spranger JW, Brill PW, Poznanski A. Bone dysplasias, 2nd ed. New York, NY: Oxford University Press; 2002;
- Bhavani GS, Shah H, Shukla A, Dalal A & Girisha KM. Progressive pseudorheumatoid dysplasia. GeneReviews. November, 2015; https://www.ncbi.nlm.nih.gov/books/NBK327267/.