Scalp defects-postaxial polydactyly syndrome: Difference between revisions
CSV import |
CSV import |
||
| Line 1: | Line 1: | ||
{{SI}} | |||
{{Infobox medical condition | |||
| name = Scalp defects-postaxial polydactyly syndrome | |||
| image = [[File:X-ray_of_polydactyl_feet_(Reeve_48693),_National_Museum_of_Health_and_Medicine_(3298021231).jpg|250px]] | |||
| caption = X-ray showing polydactyl feet | |||
| synonyms = | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Scalp defects]], [[postaxial polydactyly]] | |||
| onset = | |||
| duration = | |||
| types = | |||
| causes = [[Genetic mutation]] | |||
| risks = | |||
| diagnosis = [[Clinical examination]], [[genetic testing]] | |||
| differential = | |||
| prevention = | |||
| treatment = [[Surgical correction]] | |||
| medication = | |||
| prognosis = | |||
| frequency = | |||
| deaths = | |||
}} | |||
'''Scalp defects-postaxial polydactyly syndrome''' is a rare genetic disorder characterized by the presence of [[scalp defects]] and [[postaxial polydactyly]]. This syndrome falls under the category of [[genetic disorders]] that affect both the skin and the development of the limbs. Scalp defects refer to missing patches of skin on the scalp, which can vary in size and severity. Postaxial polydactyly is a condition where an individual has extra fingers or toes on the side of the hands or feet, respectively, that is furthest from the body (postaxial). | '''Scalp defects-postaxial polydactyly syndrome''' is a rare genetic disorder characterized by the presence of [[scalp defects]] and [[postaxial polydactyly]]. This syndrome falls under the category of [[genetic disorders]] that affect both the skin and the development of the limbs. Scalp defects refer to missing patches of skin on the scalp, which can vary in size and severity. Postaxial polydactyly is a condition where an individual has extra fingers or toes on the side of the hands or feet, respectively, that is furthest from the body (postaxial). | ||
==Causes== | ==Causes== | ||
The exact cause of scalp defects-postaxial polydactyly syndrome is not well understood, but it is believed to involve genetic mutations that affect the development of the skin and limbs during fetal growth. The condition is thought to be inherited in an [[autosomal recessive]] manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. | The exact cause of scalp defects-postaxial polydactyly syndrome is not well understood, but it is believed to involve genetic mutations that affect the development of the skin and limbs during fetal growth. The condition is thought to be inherited in an [[autosomal recessive]] manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. | ||
==Symptoms== | ==Symptoms== | ||
The primary symptoms of this syndrome include: | The primary symptoms of this syndrome include: | ||
* '''Scalp defects:''' Areas on the scalp where skin is missing, which can lead to complications such as infection or increased sensitivity to the sun. | * '''Scalp defects:''' Areas on the scalp where skin is missing, which can lead to complications such as infection or increased sensitivity to the sun. | ||
* '''Postaxial polydactyly:''' The presence of extra fingers or toes on the outer sides of the hands or feet. This can vary from small, easily removable nubbins to fully formed and functional digits. | * '''Postaxial polydactyly:''' The presence of extra fingers or toes on the outer sides of the hands or feet. This can vary from small, easily removable nubbins to fully formed and functional digits. | ||
Other symptoms may vary between individuals and can include additional [[skin abnormalities]], [[skeletal abnormalities]], and in some cases, [[intellectual disability]]. | Other symptoms may vary between individuals and can include additional [[skin abnormalities]], [[skeletal abnormalities]], and in some cases, [[intellectual disability]]. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of scalp defects-postaxial polydactyly syndrome is primarily based on the physical symptoms present at birth or identified shortly thereafter. Genetic testing may be used to confirm the diagnosis and to understand the specific mutation causing the syndrome. Prenatal diagnosis may be possible if there is a known risk of the syndrome in the family. | Diagnosis of scalp defects-postaxial polydactyly syndrome is primarily based on the physical symptoms present at birth or identified shortly thereafter. Genetic testing may be used to confirm the diagnosis and to understand the specific mutation causing the syndrome. Prenatal diagnosis may be possible if there is a known risk of the syndrome in the family. | ||
==Treatment== | ==Treatment== | ||
Treatment for scalp defects-postaxial polydactyly syndrome is symptomatic and supportive. Management may include: | Treatment for scalp defects-postaxial polydactyly syndrome is symptomatic and supportive. Management may include: | ||
| Line 19: | Line 37: | ||
* Careful management of scalp defects to prevent infection and protect the area from sun exposure. This may include the use of protective headgear and skin grafts in severe cases. | * Careful management of scalp defects to prevent infection and protect the area from sun exposure. This may include the use of protective headgear and skin grafts in severe cases. | ||
* Regular monitoring for any additional complications that may arise, such as skeletal abnormalities or developmental delays, with appropriate interventions as needed. | * Regular monitoring for any additional complications that may arise, such as skeletal abnormalities or developmental delays, with appropriate interventions as needed. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with scalp defects-postaxial polydactyly syndrome varies depending on the severity of the symptoms and the presence of any associated complications. With appropriate management, most individuals can lead a normal life. However, ongoing medical care may be required for skin and limb abnormalities. | The prognosis for individuals with scalp defects-postaxial polydactyly syndrome varies depending on the severity of the symptoms and the presence of any associated complications. With appropriate management, most individuals can lead a normal life. However, ongoing medical care may be required for skin and limb abnormalities. | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Dermatologic disorders]] | [[Category:Dermatologic disorders]] | ||
[[Category:Congenital disorders of musculoskeletal system]] | [[Category:Congenital disorders of musculoskeletal system]] | ||
{{Medicine-stub}} | {{Medicine-stub}} | ||
Latest revision as of 05:38, 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
| Scalp defects-postaxial polydactyly syndrome | |
|---|---|
,_National_Museum_of_Health_and_Medicine_(3298021231).jpg)
| |
| Synonyms | |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Scalp defects, postaxial polydactyly |
| Complications | N/A |
| Onset | |
| Duration | |
| Types | |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Clinical examination, genetic testing |
| Differential diagnosis | |
| Prevention | |
| Treatment | Surgical correction |
| Medication | |
| Prognosis | |
| Frequency | |
| Deaths | |
Scalp defects-postaxial polydactyly syndrome is a rare genetic disorder characterized by the presence of scalp defects and postaxial polydactyly. This syndrome falls under the category of genetic disorders that affect both the skin and the development of the limbs. Scalp defects refer to missing patches of skin on the scalp, which can vary in size and severity. Postaxial polydactyly is a condition where an individual has extra fingers or toes on the side of the hands or feet, respectively, that is furthest from the body (postaxial).
Causes[edit]
The exact cause of scalp defects-postaxial polydactyly syndrome is not well understood, but it is believed to involve genetic mutations that affect the development of the skin and limbs during fetal growth. The condition is thought to be inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.
Symptoms[edit]
The primary symptoms of this syndrome include:
- Scalp defects: Areas on the scalp where skin is missing, which can lead to complications such as infection or increased sensitivity to the sun.
- Postaxial polydactyly: The presence of extra fingers or toes on the outer sides of the hands or feet. This can vary from small, easily removable nubbins to fully formed and functional digits.
Other symptoms may vary between individuals and can include additional skin abnormalities, skeletal abnormalities, and in some cases, intellectual disability.
Diagnosis[edit]
Diagnosis of scalp defects-postaxial polydactyly syndrome is primarily based on the physical symptoms present at birth or identified shortly thereafter. Genetic testing may be used to confirm the diagnosis and to understand the specific mutation causing the syndrome. Prenatal diagnosis may be possible if there is a known risk of the syndrome in the family.
Treatment[edit]
Treatment for scalp defects-postaxial polydactyly syndrome is symptomatic and supportive. Management may include:
- Surgical correction of postaxial polydactyly to remove extra digits and possibly improve function of the hands or feet.
- Careful management of scalp defects to prevent infection and protect the area from sun exposure. This may include the use of protective headgear and skin grafts in severe cases.
- Regular monitoring for any additional complications that may arise, such as skeletal abnormalities or developmental delays, with appropriate interventions as needed.
Prognosis[edit]
The prognosis for individuals with scalp defects-postaxial polydactyly syndrome varies depending on the severity of the symptoms and the presence of any associated complications. With appropriate management, most individuals can lead a normal life. However, ongoing medical care may be required for skin and limb abnormalities.
