Hemimelia: Difference between revisions
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{{Infobox medical condition | |||
| name = Hemimelia | |||
| image = [[File:2219Boys_of_the_Philippines_with_congenital_childhood_blindness_and_amputation_birth_defect_05.jpg|250px]] | |||
| caption = A child with hemimelia affecting the limbs | |||
| field = [[Orthopedics]] | |||
| synonyms = | |||
| symptoms = Limb abnormalities, missing bones | |||
| complications = Mobility issues, need for prosthetics | |||
| onset = [[Congenital disorder|Congenital]] | |||
| duration = Lifelong | |||
| causes = Genetic mutations, environmental factors | |||
| risks = Family history, certain environmental exposures | |||
| diagnosis = [[Prenatal diagnosis]], [[Ultrasound]], [[X-ray]] | |||
| differential = [[Amelia (birth defect)|Amelia]], [[Phocomelia]] | |||
| prevention = | |||
| treatment = [[Prosthetics]], [[Orthopedic surgery]] | |||
| medication = | |||
| prognosis = Varies depending on severity | |||
| frequency = Rare | |||
}} | |||
[[File:Gould_Pyle_115.jpg|Gould Pyle 115s|thumb|left]] | |||
'''Hemimelia''' is a rare medical condition that involves the absence or underdevelopment of one or more limbs. It can affect either the upper or lower limbs and can occur on one side (unilateral) or both sides (bilateral) of the body. The condition is present at birth and can be diagnosed through physical examination and imaging studies. | '''Hemimelia''' is a rare medical condition that involves the absence or underdevelopment of one or more limbs. It can affect either the upper or lower limbs and can occur on one side (unilateral) or both sides (bilateral) of the body. The condition is present at birth and can be diagnosed through physical examination and imaging studies. | ||
==Causes== | ==Causes== | ||
The exact cause of hemimelia is unknown, but it is believed to be due to a disruption in the formation of the limb during fetal development. This could be due to genetic factors, environmental factors, or a combination of both. Some cases of hemimelia have been associated with certain genetic syndromes, such as [[Thrombocytopenia-absent radius (TAR) syndrome]] and [[Werner syndrome]]. | The exact cause of hemimelia is unknown, but it is believed to be due to a disruption in the formation of the limb during fetal development. This could be due to genetic factors, environmental factors, or a combination of both. Some cases of hemimelia have been associated with certain genetic syndromes, such as [[Thrombocytopenia-absent radius (TAR) syndrome]] and [[Werner syndrome]]. | ||
==Symptoms== | ==Symptoms== | ||
The main symptom of hemimelia is the absence or underdevelopment of a limb. This can range from a mild deformity, such as a missing finger, to a severe deformity, such as the absence of an entire arm or leg. Other symptoms can include: | The main symptom of hemimelia is the absence or underdevelopment of a limb. This can range from a mild deformity, such as a missing finger, to a severe deformity, such as the absence of an entire arm or leg. Other symptoms can include: | ||
* Shortened limbs | * Shortened limbs | ||
* Deformed hands or feet | * Deformed hands or feet | ||
* Limited mobility | * Limited mobility | ||
* Difficulty with balance and coordination | * Difficulty with balance and coordination | ||
==Diagnosis== | ==Diagnosis== | ||
Hemimelia can be diagnosed through a physical examination and imaging studies, such as X-rays, CT scans, and MRI scans. Genetic testing may also be performed to identify any associated genetic syndromes. | Hemimelia can be diagnosed through a physical examination and imaging studies, such as X-rays, CT scans, and MRI scans. Genetic testing may also be performed to identify any associated genetic syndromes. | ||
==Treatment== | ==Treatment== | ||
The treatment for hemimelia depends on the severity of the condition and the specific needs of the individual. Treatment options can include: | The treatment for hemimelia depends on the severity of the condition and the specific needs of the individual. Treatment options can include: | ||
* Physical therapy | * Physical therapy | ||
* Occupational therapy | * Occupational therapy | ||
* Prosthetics | * Prosthetics | ||
* Surgery | * Surgery | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with hemimelia varies depending on the severity of the condition and the success of treatment. With appropriate treatment and support, many individuals with hemimelia can lead active and fulfilling lives. | The prognosis for individuals with hemimelia varies depending on the severity of the condition and the success of treatment. With appropriate treatment and support, many individuals with hemimelia can lead active and fulfilling lives. | ||
==See also== | ==See also== | ||
* [[Congenital anomalies]] | * [[Congenital anomalies]] | ||
* [[Limb development]] | * [[Limb development]] | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
[[Category:Medical conditions]] | [[Category:Medical conditions]] | ||
[[Category:Congenital disorders]] | [[Category:Congenital disorders]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 04:08, 9 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
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| Hemimelia | |
|---|---|
| |
| Synonyms | |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Limb abnormalities, missing bones |
| Complications | Mobility issues, need for prosthetics |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutations, environmental factors |
| Risks | Family history, certain environmental exposures |
| Diagnosis | Prenatal diagnosis, Ultrasound, X-ray |
| Differential diagnosis | Amelia, Phocomelia |
| Prevention | |
| Treatment | Prosthetics, Orthopedic surgery |
| Medication | |
| Prognosis | Varies depending on severity |
| Frequency | Rare |
| Deaths | N/A |
Hemimelia is a rare medical condition that involves the absence or underdevelopment of one or more limbs. It can affect either the upper or lower limbs and can occur on one side (unilateral) or both sides (bilateral) of the body. The condition is present at birth and can be diagnosed through physical examination and imaging studies.
Causes[edit]
The exact cause of hemimelia is unknown, but it is believed to be due to a disruption in the formation of the limb during fetal development. This could be due to genetic factors, environmental factors, or a combination of both. Some cases of hemimelia have been associated with certain genetic syndromes, such as Thrombocytopenia-absent radius (TAR) syndrome and Werner syndrome.
Symptoms[edit]
The main symptom of hemimelia is the absence or underdevelopment of a limb. This can range from a mild deformity, such as a missing finger, to a severe deformity, such as the absence of an entire arm or leg. Other symptoms can include:
- Shortened limbs
- Deformed hands or feet
- Limited mobility
- Difficulty with balance and coordination
Diagnosis[edit]
Hemimelia can be diagnosed through a physical examination and imaging studies, such as X-rays, CT scans, and MRI scans. Genetic testing may also be performed to identify any associated genetic syndromes.
Treatment[edit]
The treatment for hemimelia depends on the severity of the condition and the specific needs of the individual. Treatment options can include:
- Physical therapy
- Occupational therapy
- Prosthetics
- Surgery
Prognosis[edit]
The prognosis for individuals with hemimelia varies depending on the severity of the condition and the success of treatment. With appropriate treatment and support, many individuals with hemimelia can lead active and fulfilling lives.
