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Disease Profile

Pseudoachondroplasia

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 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Infancy

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ICD-10

Q77.8

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.

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)

Pseudoachondroplastic dysplasia; PSACH; Pseudoachondroplastic spondyloepiphyseal dysplasia;

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

Pseudoachondroplasia is an inherited disorder of bone growth which is characterized by short stature. Other features include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. Intelligence, facial features and head size are normal. Pseudoachondroplasia is caused by mutations in the COMP gene. This condition is inherited in an autosomal dominant pattern.[1]

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
Disproportionate short-limb short stature
Short limb dwarfism, disproportionate
Short-limbed dwarfism

[ more ]

0008873
30%-79% of people have these symptoms
Arthralgia
Joint pain
0002829
Brachydactyly
Short fingers or toes
0001156
Delayed epiphyseal ossification
0002663
Distal joint laxity
0020152
Generalized joint laxity
Hypermobility of all joints
0002761
Increased laxity of fingers
0006149
Irregular epiphyses
Irregular end part of long bone
0010582
Knee joint hypermobility
Knee joint over-flexibility
0045086
Limb undergrowth
limb shortening
Short limb
Short limbs

[ more ]

0009826
Lumbar hyperlordosis
Excessive inward curvature of lower spine
0002938
Metaphyseal irregularity
Irregular wide portion of a long bone
0003025
Osteoarthritis
Degenerative joint disease
0002758
Platyspondyly
Flattened vertebrae
0000926
Short long bone
Long bone shortening
0003026
Short phalanx of finger
Short finger bones
0009803
Shortening of all metacarpals
0005720
Waddling gait
'Waddling' gait
Waddling walk

[ more ]

0002515
Wind-swept deformity of the knees
0100531
5%-29% of people have these symptoms
Abnormal ossification involving the femoral head and neck
0009107
Acetabular dysplasia
0008807
Beaking of vertebral bodies
0004568
Cone-shaped epiphysis
Cone-shaped end part of bone
0010579
Flared metaphysis
Flared wide portion of long bone
0003015
Flat acetabular roof
0003180
Hypoplasia of the capital femoral epiphysis
Small innermost thighbone end part
Underdevelopment of the innermost thighbone end part

[ more ]

0003090
Hypoplastic pelvis
0008839
Increased laxity of ankles
0006460
Irregular acetabular roof
0008833
Irregular carpal bones
0004236
Joint stiffness
Stiff joint
Stiff joints

[ more ]

0001387
Limited elbow extension
Restricted elbow extension
Limited extension at elbows
Limitation of elbow extension
Elbow limited extension
Decreased elbow extension
Limited forearm extension

[ more ]

0001377
Limited hip extension
Restricted hip extension
0003093
Scoliosis
0002650
Short femoral neck
Short neck of thighbone
0100864
Skeletal myopathy
0003756
Small epiphyses
Small end part of bone
0010585
1%-4% of people have these symptoms
Cervical spine instability
0010646
Genu varum
Outward bow-leggedness
Outward bowing at knees

[ more ]

0002970
Hypoplasia of the odontoid process
0003311
Limited shoulder movement
0006467
Percent of people who have these symptoms is not available through HPO
Atlantoaxial dislocation
0003414
Autosomal dominant inheritance
0000006
Carpal bone hypoplasia
Small carpal bones
Small carpals

[ more ]

0001498
Cervical cord compression
0002341
Childhood onset short-limb short stature
0011405
Flared femoral metaphysis
0002834
Fragmented epiphyses
Fragmented end part of bone
0100168
Fragmented, irregular epiphyses
Fragmented, irregular end part of bone
0005063
Genu recurvatum
Back knee
Knee hyperextension

[ more ]

0002816
Genu valgum
Knock knees
0002857
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness

[ more ]

0001388
Kyphosis
Hunched back
Round back

[ more ]

0002808
Radial metaphyseal irregularity
0004019
Sensory neuropathy
Damage to nerves that sense feeling
0000763
Short distal phalanx of finger
Short outermost finger bone
0009882
Short metacarpal
Shortened long bone of hand
0010049
Small epiphyses of the phalanges of the hand
Small end part of finger bones
0010236
Spatulate ribs
0012307
Ulnar deviation of the hand
0009487
Ulnar deviation of the wrist
0003049
Ulnar metaphyseal irregularity
0004042

All individuals with pseudoachondroplasia have short stature. While affected individuals are typically of normal length at birth, their growth rate tends to fall below the standard growth curve by age two. The average height of an adult male is 3 feet, 11 inches and the average height of an adult female is 3 feet, 9 inches. Other features of pseudoachondroplasia include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. Some individuals develop abnormal curvatures of the spine (scoliosis and/or

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.

    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 (GHR) contains information on Pseudoachondroplasia. This website is maintained by the National Library of Medicine.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        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.
        • 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 Pseudoachondroplasia. Click on the link to view a sample search on this topic.

          References

          1. Pseudoachondroplasia. Genetics Home Reference (GHR). February 2008; https://ghr.nlm.nih.gov/condition=pseudoachondroplasia. Accessed 10/30/2012.
          2. Cohn DH. Pseudoachondroplasia. GeneReviews. April 13, 2010; https://www.ncbi.nlm.nih.gov/books/NBK1487/. Accessed 10/30/2012.

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