Pseudoachondroplasia: Difference between revisions
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{{Infobox medical condition | |||
| name = Pseudoachondroplasia | |||
| image = [[File:Pseudoachondroplasia._01.jpg|alt=Pseudoachondroplasia]] | |||
| caption = X-ray of a patient with pseudoachondroplasia | |||
| field = [[Medical genetics]] | |||
| symptoms = Short stature, joint pain, limb deformities | |||
| onset = Early childhood | |||
| duration = Lifelong | |||
| causes = Mutations in the [[COMP (gene)|COMP]] gene | |||
| risks = [[Osteoarthritis]], joint problems | |||
| diagnosis = [[Genetic testing]], clinical evaluation | |||
| differential = [[Achondroplasia]], [[Multiple epiphyseal dysplasia]] | |||
| treatment = Symptomatic management, physical therapy | |||
| prognosis = Normal life expectancy with management | |||
| frequency = 1 in 30,000 individuals | |||
}} | |||
[[File:Pseudoachondroplasia._02.jpg|Pseudoachondroplasia|thumb|left]] | |||
'''Pseudoachondroplasia''' is a rare, inherited disorder that affects bone growth and results in short stature. This condition is a form of [[short stature]] that is not evident at birth but becomes apparent in early childhood. The average adult height for individuals with pseudoachondroplasia is about 120 centimeters (4 feet). | '''Pseudoachondroplasia''' is a rare, inherited disorder that affects bone growth and results in short stature. This condition is a form of [[short stature]] that is not evident at birth but becomes apparent in early childhood. The average adult height for individuals with pseudoachondroplasia is about 120 centimeters (4 feet). | ||
== Signs and Symptoms == | == Signs and Symptoms == | ||
People with pseudoachondroplasia have normal facial features, head size, and intelligence. This condition does not affect the development of the skull or the brain. However, individuals with pseudoachondroplasia have short arms and legs and a narrow chest with prominent shoulder blades. Other skeletal signs and symptoms include a limited range of motion in the elbows and hips, and an inward- and downward-turning foot (called [[clubfoot]]). | People with pseudoachondroplasia have normal facial features, head size, and intelligence. This condition does not affect the development of the skull or the brain. However, individuals with pseudoachondroplasia have short arms and legs and a narrow chest with prominent shoulder blades. Other skeletal signs and symptoms include a limited range of motion in the elbows and hips, and an inward- and downward-turning foot (called [[clubfoot]]). | ||
== Causes == | == Causes == | ||
Pseudoachondroplasia is caused by mutations in the [[COMP]] gene. This gene provides instructions for making a protein that is found in the spaces between cells where it interacts with other proteins to form the extracellular matrix. This matrix lends strength and flexibility to tissues throughout the body. | Pseudoachondroplasia is caused by mutations in the [[COMP]] gene. This gene provides instructions for making a protein that is found in the spaces between cells where it interacts with other proteins to form the extracellular matrix. This matrix lends strength and flexibility to tissues throughout the body. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of pseudoachondroplasia is typically made based on a thorough clinical evaluation, a detailed patient history, and specialized tests such as advanced imaging techniques. | The diagnosis of pseudoachondroplasia is typically made based on a thorough clinical evaluation, a detailed patient history, and specialized tests such as advanced imaging techniques. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for pseudoachondroplasia. Treatment is symptomatic and supportive. Physical therapy may be beneficial for some affected individuals. Additional treatment is symptomatic and supportive. | There is currently no cure for pseudoachondroplasia. Treatment is symptomatic and supportive. Physical therapy may be beneficial for some affected individuals. Additional treatment is symptomatic and supportive. | ||
== See Also == | == See Also == | ||
* [[Achondroplasia]] | * [[Achondroplasia]] | ||
* [[Dwarfism]] | * [[Dwarfism]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Bone diseases]] | [[Category:Bone diseases]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 07:13, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Pseudoachondroplasia | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Short stature, joint pain, limb deformities |
| Complications | N/A |
| Onset | Early childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the COMP gene |
| Risks | Osteoarthritis, joint problems |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Achondroplasia, Multiple epiphyseal dysplasia |
| Prevention | N/A |
| Treatment | Symptomatic management, physical therapy |
| Medication | N/A |
| Prognosis | Normal life expectancy with management |
| Frequency | 1 in 30,000 individuals |
| Deaths | N/A |
Pseudoachondroplasia is a rare, inherited disorder that affects bone growth and results in short stature. This condition is a form of short stature that is not evident at birth but becomes apparent in early childhood. The average adult height for individuals with pseudoachondroplasia is about 120 centimeters (4 feet).
Signs and Symptoms[edit]
People with pseudoachondroplasia have normal facial features, head size, and intelligence. This condition does not affect the development of the skull or the brain. However, individuals with pseudoachondroplasia have short arms and legs and a narrow chest with prominent shoulder blades. Other skeletal signs and symptoms include a limited range of motion in the elbows and hips, and an inward- and downward-turning foot (called clubfoot).
Causes[edit]
Pseudoachondroplasia is caused by mutations in the COMP gene. This gene provides instructions for making a protein that is found in the spaces between cells where it interacts with other proteins to form the extracellular matrix. This matrix lends strength and flexibility to tissues throughout the body.
Diagnosis[edit]
The diagnosis of pseudoachondroplasia is typically made based on a thorough clinical evaluation, a detailed patient history, and specialized tests such as advanced imaging techniques.
Treatment[edit]
There is currently no cure for pseudoachondroplasia. Treatment is symptomatic and supportive. Physical therapy may be beneficial for some affected individuals. Additional treatment is symptomatic and supportive.
See Also[edit]
References[edit]
<references />
