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Disease Profile

Progressive pseudorheumatoid dysplasia

Prevalence
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

331 - 2,979

US Estimated

1-9 / 1 000 000

514 - 4,622

Europe Estimated

Age of onset

Childhood

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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 (contractures), short stature, and widening of the ends of the finger and toe bones as well as other tubular bones.[1] Bony widening at the fingers' joints progresses leading to permanent bending of the fingers (camptodactyly). Spine involvement results in short trunk and hunching of the back (kyphosis).[2] It may initially be mistaken for juvenile rheumatoid arthritis, however people with this condition do not have the laboratory test results of juvenile rheumatoid arthritis. PPD is caused by a mutation in the WISP3 gene and is inherited in an autosomal recessive pattern. There is still no cure. Treatment may include pain medication and hip and knee joint replacement surgery at an early age.[1][2]

 

 

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
Short stature
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
Scoliosis
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
Autosomal recessive inheritance
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
Osteoporosis
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.

    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

      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

          1. Spranger JW, Brill PW, Poznanski A. Bone dysplasias, 2nd ed. New York, NY: Oxford University Press; 2002;
          2. Bhavani GS, Shah H, Shukla A, Dalal A & Girisha KM. Progressive pseudorheumatoid dysplasia. GeneReviews. November, 2015; https://www.ncbi.nlm.nih.gov/books/NBK327267/.