Phocomelia: Difference between revisions
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{{Infobox medical condition | |||
| name = Phocomelia | |||
| image = [[File:Thalidomide_effects.jpg|250px]] | |||
| caption = Child with phocomelia due to [[thalidomide]] exposure | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Limb reduction]] | |||
| complications = [[Mobility impairment]], [[functional limitations]] | |||
| onset = [[Congenital]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]], [[thalidomide]] exposure during pregnancy | |||
| risks = [[Teratogenic]] drugs, [[genetic predisposition]] | |||
| diagnosis = [[Prenatal ultrasound]], [[physical examination]] | |||
| differential = [[Amelia (birth defect)]], [[Sirenomelia]] | |||
| prevention = Avoidance of teratogenic drugs during pregnancy | |||
| treatment = [[Prosthetics]], [[physical therapy]], [[occupational therapy]] | |||
| prognosis = Varies depending on severity and treatment | |||
| frequency = Rare | |||
}} | |||
[[File:Ears_of_phocomelia_patients.jpg|Ears of phocomelia patients|thumb|left]] | |||
[[File:Phocomelia1.jpg|Phocomelia|thumb]] | |||
[[File:Phocomelia.jpg|Phocomelia|thumb|left]] | |||
'''Phocomelia''' is a rare congenital disorder that involves malformations of the arms and legs. Although the exact cause of phocomelia is unknown, it is believed to be associated with genetic and environmental factors. The condition was notably linked to the use of the drug thalidomide, which was prescribed to pregnant women in the late 1950s and early 1960s to alleviate morning sickness. | '''Phocomelia''' is a rare congenital disorder that involves malformations of the arms and legs. Although the exact cause of phocomelia is unknown, it is believed to be associated with genetic and environmental factors. The condition was notably linked to the use of the drug thalidomide, which was prescribed to pregnant women in the late 1950s and early 1960s to alleviate morning sickness. | ||
== Causes == | == Causes == | ||
Phocomelia is typically caused by genetic mutations or environmental factors. The most well-known environmental cause is exposure to the drug [[thalidomide]] during pregnancy. Thalidomide was widely prescribed in the late 1950s and early 1960s to alleviate morning sickness, but was later found to cause severe birth defects, including phocomelia. Other potential causes include exposure to radiation, infection during pregnancy, or use of other drugs or chemicals. | Phocomelia is typically caused by genetic mutations or environmental factors. The most well-known environmental cause is exposure to the drug [[thalidomide]] during pregnancy. Thalidomide was widely prescribed in the late 1950s and early 1960s to alleviate morning sickness, but was later found to cause severe birth defects, including phocomelia. Other potential causes include exposure to radiation, infection during pregnancy, or use of other drugs or chemicals. | ||
== Symptoms == | == Symptoms == | ||
The primary symptom of phocomelia is the presence of shortened or absent limbs. The severity of the condition can vary widely, with some individuals having only minor deformities and others having significant physical disabilities. Other symptoms can include facial abnormalities, heart defects, and intellectual disabilities. | The primary symptom of phocomelia is the presence of shortened or absent limbs. The severity of the condition can vary widely, with some individuals having only minor deformities and others having significant physical disabilities. Other symptoms can include facial abnormalities, heart defects, and intellectual disabilities. | ||
== Diagnosis == | == Diagnosis == | ||
Phocomelia is usually diagnosed at birth based on the physical appearance of the baby. In some cases, the condition can be detected before birth through [[ultrasound]] imaging. Genetic testing may also be used to confirm the diagnosis and identify any underlying genetic mutations. | Phocomelia is usually diagnosed at birth based on the physical appearance of the baby. In some cases, the condition can be detected before birth through [[ultrasound]] imaging. Genetic testing may also be used to confirm the diagnosis and identify any underlying genetic mutations. | ||
== Treatment == | == Treatment == | ||
There is no cure for phocomelia, but treatment can help manage the symptoms and improve quality of life. Treatment options include physical therapy, occupational therapy, and surgery to correct deformities or improve function. In some cases, prosthetic limbs may be used. | There is no cure for phocomelia, but treatment can help manage the symptoms and improve quality of life. Treatment options include physical therapy, occupational therapy, and surgery to correct deformities or improve function. In some cases, prosthetic limbs may be used. | ||
== See also == | == See also == | ||
* [[Thalidomide]] | * [[Thalidomide]] | ||
* [[Congenital disorder]] | * [[Congenital disorder]] | ||
* [[Genetic mutation]] | * [[Genetic mutation]] | ||
[[Category:Congenital disorders]] | [[Category:Congenital disorders]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 04:43, 13 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
| Phocomelia | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Limb reduction |
| Complications | Mobility impairment, functional limitations |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation, thalidomide exposure during pregnancy |
| Risks | Teratogenic drugs, genetic predisposition |
| Diagnosis | Prenatal ultrasound, physical examination |
| Differential diagnosis | Amelia (birth defect), Sirenomelia |
| Prevention | Avoidance of teratogenic drugs during pregnancy |
| Treatment | Prosthetics, physical therapy, occupational therapy |
| Medication | N/A |
| Prognosis | Varies depending on severity and treatment |
| Frequency | Rare |
| Deaths | N/A |
Phocomelia is a rare congenital disorder that involves malformations of the arms and legs. Although the exact cause of phocomelia is unknown, it is believed to be associated with genetic and environmental factors. The condition was notably linked to the use of the drug thalidomide, which was prescribed to pregnant women in the late 1950s and early 1960s to alleviate morning sickness.
Causes[edit]
Phocomelia is typically caused by genetic mutations or environmental factors. The most well-known environmental cause is exposure to the drug thalidomide during pregnancy. Thalidomide was widely prescribed in the late 1950s and early 1960s to alleviate morning sickness, but was later found to cause severe birth defects, including phocomelia. Other potential causes include exposure to radiation, infection during pregnancy, or use of other drugs or chemicals.
Symptoms[edit]
The primary symptom of phocomelia is the presence of shortened or absent limbs. The severity of the condition can vary widely, with some individuals having only minor deformities and others having significant physical disabilities. Other symptoms can include facial abnormalities, heart defects, and intellectual disabilities.
Diagnosis[edit]
Phocomelia is usually diagnosed at birth based on the physical appearance of the baby. In some cases, the condition can be detected before birth through ultrasound imaging. Genetic testing may also be used to confirm the diagnosis and identify any underlying genetic mutations.
Treatment[edit]
There is no cure for phocomelia, but treatment can help manage the symptoms and improve quality of life. Treatment options include physical therapy, occupational therapy, and surgery to correct deformities or improve function. In some cases, prosthetic limbs may be used.
