Angel-shaped phalango-epiphyseal dysplasia: Difference between revisions
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{{Infobox medical condition | |||
| name = Angel-shaped phalango-epiphyseal dysplasia | |||
| synonyms = ASPED | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Short stature]], [[joint pain]], [[scoliosis]], [[brachydactyly]] | |||
| onset = [[Childhood]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] | |||
| risks = [[Family history]] | |||
| diagnosis = [[Clinical examination]], [[radiographic imaging]], [[genetic testing]] | |||
| differential = [[Multiple epiphyseal dysplasia]], [[spondyloepiphyseal dysplasia]] | |||
| treatment = [[Symptomatic treatment]], [[physical therapy]], [[orthopedic surgery]] | |||
| prognosis = [[Variable]], depends on severity | |||
| frequency = [[Rare]] | |||
}} | |||
'''Angel-shaped phalango-epiphyseal dysplasia''' (ASPED) is a rare [[genetic disorder]] that primarily affects the development of the [[bones]] and [[joints]]. This condition is characterized by abnormalities in the bones of the hands and feet, and often results in short stature. | '''Angel-shaped phalango-epiphyseal dysplasia''' (ASPED) is a rare [[genetic disorder]] that primarily affects the development of the [[bones]] and [[joints]]. This condition is characterized by abnormalities in the bones of the hands and feet, and often results in short stature. | ||
==Characteristics== | ==Characteristics== | ||
The most distinctive feature of ASPED is the presence of angel-shaped [[phalanges]], which are the bones in the fingers and toes. This abnormal shape is due to the underdevelopment of the [[epiphyses]], which are the ends of the long bones. Other common features of this condition include [[joint pain]], limited range of motion, and early-onset [[osteoarthritis]]. | The most distinctive feature of ASPED is the presence of angel-shaped [[phalanges]], which are the bones in the fingers and toes. This abnormal shape is due to the underdevelopment of the [[epiphyses]], which are the ends of the long bones. Other common features of this condition include [[joint pain]], limited range of motion, and early-onset [[osteoarthritis]]. | ||
==Genetics== | ==Genetics== | ||
ASPED is caused by mutations in the [[TRPV4]] gene. This gene provides instructions for making a protein that plays a key role in the formation of bone and cartilage. Mutations in the TRPV4 gene disrupt this process, leading to the skeletal abnormalities seen in ASPED. | ASPED is caused by mutations in the [[TRPV4]] gene. This gene provides instructions for making a protein that plays a key role in the formation of bone and cartilage. Mutations in the TRPV4 gene disrupt this process, leading to the skeletal abnormalities seen in ASPED. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of ASPED is based on the characteristic physical features and confirmed by [[genetic testing]] for mutations in the TRPV4 gene. [[Radiographic imaging]] may also be used to visualize the angel-shaped phalanges and other skeletal abnormalities. | Diagnosis of ASPED is based on the characteristic physical features and confirmed by [[genetic testing]] for mutations in the TRPV4 gene. [[Radiographic imaging]] may also be used to visualize the angel-shaped phalanges and other skeletal abnormalities. | ||
==Treatment== | ==Treatment== | ||
There is currently no cure for ASPED. Treatment is symptomatic and supportive, and may include [[physical therapy]] to improve joint mobility and pain management. In some cases, [[surgery]] may be necessary to correct skeletal deformities. | There is currently no cure for ASPED. Treatment is symptomatic and supportive, and may include [[physical therapy]] to improve joint mobility and pain management. In some cases, [[surgery]] may be necessary to correct skeletal deformities. | ||
==See also== | ==See also== | ||
* [[Epiphyseal dysplasia]] | * [[Epiphyseal dysplasia]] | ||
* [[TRPV4]] | * [[TRPV4]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
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{{skeletal-disorder-stub}} | {{skeletal-disorder-stub}} | ||
{{No image}} | {{No image}} | ||
Latest revision as of 22:18, 3 April 2025
| Angel-shaped phalango-epiphyseal dysplasia | |
|---|---|
| Synonyms | ASPED |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Short stature, joint pain, scoliosis, brachydactyly |
| Complications | N/A |
| Onset | Childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history |
| Diagnosis | Clinical examination, radiographic imaging, genetic testing |
| Differential diagnosis | Multiple epiphyseal dysplasia, spondyloepiphyseal dysplasia |
| Prevention | N/A |
| Treatment | Symptomatic treatment, physical therapy, orthopedic surgery |
| Medication | N/A |
| Prognosis | Variable, depends on severity |
| Frequency | Rare |
| Deaths | N/A |
Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a rare genetic disorder that primarily affects the development of the bones and joints. This condition is characterized by abnormalities in the bones of the hands and feet, and often results in short stature.
Characteristics[edit]
The most distinctive feature of ASPED is the presence of angel-shaped phalanges, which are the bones in the fingers and toes. This abnormal shape is due to the underdevelopment of the epiphyses, which are the ends of the long bones. Other common features of this condition include joint pain, limited range of motion, and early-onset osteoarthritis.
Genetics[edit]
ASPED is caused by mutations in the TRPV4 gene. This gene provides instructions for making a protein that plays a key role in the formation of bone and cartilage. Mutations in the TRPV4 gene disrupt this process, leading to the skeletal abnormalities seen in ASPED.
Diagnosis[edit]
Diagnosis of ASPED is based on the characteristic physical features and confirmed by genetic testing for mutations in the TRPV4 gene. Radiographic imaging may also be used to visualize the angel-shaped phalanges and other skeletal abnormalities.
Treatment[edit]
There is currently no cure for ASPED. Treatment is symptomatic and supportive, and may include physical therapy to improve joint mobility and pain management. In some cases, surgery may be necessary to correct skeletal deformities.
See also[edit]
This article is a genetic disorder stub. You can help WikiMD by expanding it!
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