Pai syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Pai syndrome | |||
| image = [[File:Cleftlipandpalate.JPG|250px]] | |||
| image_size = 250px | |||
| alt = | |||
| caption = Cleft lip and palate, a feature of Pai syndrome | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Cleft lip and palate]], [[skin tags]], [[polydactyly]] | |||
| onset = Congenital | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] | |||
| risks = | |||
| diagnosis = [[Clinical diagnosis]], [[genetic testing]] | |||
| differential = [[Orofacial clefting syndromes]] | |||
| prevention = | |||
| treatment = [[Surgical correction]], [[supportive care]] | |||
| medication = | |||
| prognosis = Variable | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
{{Short description|A rare genetic disorder}} | {{Short description|A rare genetic disorder}} | ||
'''Pai syndrome''' is a rare congenital disorder characterized by a combination of [[midline facial defects]], [[polydactyly]], and [[lipomas]]. It is a genetic condition that is typically present at birth and can affect various parts of the body, primarily the face and limbs. | '''Pai syndrome''' is a rare congenital disorder characterized by a combination of [[midline facial defects]], [[polydactyly]], and [[lipomas]]. It is a genetic condition that is typically present at birth and can affect various parts of the body, primarily the face and limbs. | ||
==Presentation== | ==Presentation== | ||
The primary features of Pai syndrome include: | The primary features of Pai syndrome include: | ||
* '''Midline facial defects''': These can include [[cleft lip]] and [[cleft palate]], which are openings or splits in the upper lip and roof of the mouth, respectively. These defects occur when the facial structures do not fuse properly during fetal development. | * '''Midline facial defects''': These can include [[cleft lip]] and [[cleft palate]], which are openings or splits in the upper lip and roof of the mouth, respectively. These defects occur when the facial structures do not fuse properly during fetal development. | ||
* '''Polydactyly''': This refers to the presence of extra fingers or toes. In Pai syndrome, polydactyly is often seen in the hands and feet. | * '''Polydactyly''': This refers to the presence of extra fingers or toes. In Pai syndrome, polydactyly is often seen in the hands and feet. | ||
* '''Lipomas''': These are benign tumors composed of fatty tissue. In Pai syndrome, lipomas are typically found in the midline of the body, such as the scalp or back. | * '''Lipomas''': These are benign tumors composed of fatty tissue. In Pai syndrome, lipomas are typically found in the midline of the body, such as the scalp or back. | ||
==Genetics== | ==Genetics== | ||
Pai syndrome is believed to have a genetic basis, although the exact genetic mutation responsible for the condition has not been definitively identified. It is thought to be inherited in an [[autosomal dominant]] manner, meaning that only one copy of the altered gene is sufficient to cause the disorder. | Pai syndrome is believed to have a genetic basis, although the exact genetic mutation responsible for the condition has not been definitively identified. It is thought to be inherited in an [[autosomal dominant]] manner, meaning that only one copy of the altered gene is sufficient to cause the disorder. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of Pai syndrome is primarily based on clinical examination and the identification of characteristic features. Genetic testing may be used to rule out other conditions with similar presentations. | Diagnosis of Pai syndrome is primarily based on clinical examination and the identification of characteristic features. Genetic testing may be used to rule out other conditions with similar presentations. | ||
==Management== | ==Management== | ||
Management of Pai syndrome is typically supportive and symptomatic. Surgical intervention may be required to correct cleft lip and palate, and to remove lipomas if they cause discomfort or functional impairment. Polydactyly may also be surgically corrected if necessary. | Management of Pai syndrome is typically supportive and symptomatic. Surgical intervention may be required to correct cleft lip and palate, and to remove lipomas if they cause discomfort or functional impairment. Polydactyly may also be surgically corrected if necessary. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with Pai syndrome varies depending on the severity of the symptoms and the presence of any associated complications. With appropriate medical care and surgical interventions, many individuals can lead normal lives. | The prognosis for individuals with Pai syndrome varies depending on the severity of the symptoms and the presence of any associated complications. With appropriate medical care and surgical interventions, many individuals can lead normal lives. | ||
==See also== | |||
== | |||
* [[Cleft lip and palate]] | * [[Cleft lip and palate]] | ||
* [[Polydactyly]] | * [[Polydactyly]] | ||
* [[Lipoma]] | * [[Lipoma]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Congenital disorders]] | [[Category:Congenital disorders]] | ||
Latest revision as of 05:31, 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
| Pai syndrome | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Cleft lip and palate, skin tags, polydactyly |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Clinical diagnosis, genetic testing |
| Differential diagnosis | Orofacial clefting syndromes |
| Prevention | |
| Treatment | Surgical correction, supportive care |
| Medication | |
| Prognosis | Variable |
| Frequency | Rare |
| Deaths | |
A rare genetic disorder
Pai syndrome is a rare congenital disorder characterized by a combination of midline facial defects, polydactyly, and lipomas. It is a genetic condition that is typically present at birth and can affect various parts of the body, primarily the face and limbs.
Presentation[edit]
The primary features of Pai syndrome include:
- Midline facial defects: These can include cleft lip and cleft palate, which are openings or splits in the upper lip and roof of the mouth, respectively. These defects occur when the facial structures do not fuse properly during fetal development.
- Polydactyly: This refers to the presence of extra fingers or toes. In Pai syndrome, polydactyly is often seen in the hands and feet.
- Lipomas: These are benign tumors composed of fatty tissue. In Pai syndrome, lipomas are typically found in the midline of the body, such as the scalp or back.
Genetics[edit]
Pai syndrome is believed to have a genetic basis, although the exact genetic mutation responsible for the condition has not been definitively identified. It is thought to be inherited in an autosomal dominant manner, meaning that only one copy of the altered gene is sufficient to cause the disorder.
Diagnosis[edit]
Diagnosis of Pai syndrome is primarily based on clinical examination and the identification of characteristic features. Genetic testing may be used to rule out other conditions with similar presentations.
Management[edit]
Management of Pai syndrome is typically supportive and symptomatic. Surgical intervention may be required to correct cleft lip and palate, and to remove lipomas if they cause discomfort or functional impairment. Polydactyly may also be surgically corrected if necessary.
Prognosis[edit]
The prognosis for individuals with Pai syndrome varies depending on the severity of the symptoms and the presence of any associated complications. With appropriate medical care and surgical interventions, many individuals can lead normal lives.
