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Disease Profile
Pseudoachondroplasia
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
Age of onset
Infancy
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.
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)
Pseudoachondroplastic dysplasia; PSACH; Pseudoachondroplastic spondyloepiphyseal dysplasia;
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Pseudoachondroplasia is an
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 |
|
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 | |
| 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 | |
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.
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
|
|---|
|
The principle differential diagnosis is achondroplasia (see this term), but the craniofacial anomalies present in this disorder are absent in patients with pseudoachondroplasia and radiographic findings differ significantly. Forms of multiple epiphyseal dysplasia (see these terms) may also be included in the differential diagnosis.
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
-
Little People of America, Inc.
617 Broadway #518
Sonoma, CA 95476
Toll-free: 1-888-572-2001
Telephone: +1-714-368-3689
Fax: +1-707-721-1896
E-mail: info@lpaonline.org
Website: https://www.lpaonline.org/ -
Little People UK
P.O Box 1292
Peterborough
PE2 2NT
United Kingdom
Telephone: 07925893398
E-mail: info@littlepeopleuk.org
Website: https://littlepeopleuk.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 (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
- Pseudoachondroplasia. Genetics Home Reference (GHR). February 2008; https://ghr.nlm.nih.gov/condition=pseudoachondroplasia. Accessed 10/30/2012.
- Cohn DH. Pseudoachondroplasia. GeneReviews. April 13, 2010; https://www.ncbi.nlm.nih.gov/books/NBK1487/. Accessed 10/30/2012.
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