Polydactyly-myopia syndrome: Difference between revisions
CSV import |
CSV import |
||
| Line 1: | Line 1: | ||
[[File: | {{SI}} | ||
{{Infobox medical condition | |||
| name = Polydactyly-myopia syndrome | |||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| caption = Polydactyly-myopia syndrome is inherited in an [[autosomal dominant]] manner | |||
| synonyms = | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Polydactyly]], [[myopia]], [[syndactyly]], [[retinal detachment]] | |||
| onset = | |||
| duration = | |||
| types = | |||
| causes = Genetic mutation | |||
| risks = | |||
| diagnosis = [[Clinical diagnosis]], [[genetic testing]] | |||
| differential = | |||
| prevention = | |||
| treatment = [[Surgical correction]], [[vision correction]] | |||
| medication = | |||
| prognosis = Variable, depending on severity | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''Polydactyly-Myopia Syndrome''' is a rare genetic disorder characterized by the presence of extra fingers or toes ([[Polydactyly]]) and nearsightedness ([[Myopia]]). This condition falls under the broader category of [[congenital anomalies]] of the limbs and [[visual impairment]] disorders. The syndrome is of significant interest in the fields of [[genetics]], [[pediatrics]], and [[ophthalmology]] due to its implications for understanding the genetic basis of limb development and vision anomalies. | |||
==Symptoms and Characteristics== | ==Symptoms and Characteristics== | ||
The primary features of Polydactyly-Myopia Syndrome include: | The primary features of Polydactyly-Myopia Syndrome include: | ||
* '''Polydactyly:''' Individuals with this syndrome may have extra fingers or toes. The polydactyly can be preaxial (before the thumb or big toe), postaxial (after the little finger or toe), or mesoaxial (central digits), and can vary in complexity from small, easily removable nubbins to fully formed, functional digits. | * '''Polydactyly:''' Individuals with this syndrome may have extra fingers or toes. The polydactyly can be preaxial (before the thumb or big toe), postaxial (after the little finger or toe), or mesoaxial (central digits), and can vary in complexity from small, easily removable nubbins to fully formed, functional digits. | ||
* '''Myopia:''' Affected individuals exhibit nearsightedness, a condition where distant objects appear blurry while close objects can be seen clearly. The severity of myopia can vary among individuals with the syndrome. | * '''Myopia:''' Affected individuals exhibit nearsightedness, a condition where distant objects appear blurry while close objects can be seen clearly. The severity of myopia can vary among individuals with the syndrome. | ||
Other possible features of the syndrome may include skeletal anomalies, [[Intellectual Disability|intellectual disability]], and [[facial dysmorphism]]. However, these additional features are less consistently observed and may vary widely among affected individuals. | Other possible features of the syndrome may include skeletal anomalies, [[Intellectual Disability|intellectual disability]], and [[facial dysmorphism]]. However, these additional features are less consistently observed and may vary widely among affected individuals. | ||
==Genetics== | ==Genetics== | ||
Polydactyly-Myopia Syndrome is believed to be inherited in an [[Autosomal Dominant]] manner, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. However, due to the rarity of the syndrome, specific genes associated with the condition have not been conclusively identified. Research into the genetic basis of the syndrome is ongoing, with studies focusing on genes involved in limb development and eye formation. | Polydactyly-Myopia Syndrome is believed to be inherited in an [[Autosomal Dominant]] manner, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. However, due to the rarity of the syndrome, specific genes associated with the condition have not been conclusively identified. Research into the genetic basis of the syndrome is ongoing, with studies focusing on genes involved in limb development and eye formation. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of Polydactyly-Myopia Syndrome is primarily based on clinical observation of the syndrome's characteristic features. Genetic testing may be helpful in confirming the diagnosis and understanding the inheritance pattern, but the absence of identified specific genes limits the utility of genetic tests. Prenatal diagnosis through [[Ultrasound]] imaging may detect polydactyly, but myopia can only be assessed after birth. | Diagnosis of Polydactyly-Myopia Syndrome is primarily based on clinical observation of the syndrome's characteristic features. Genetic testing may be helpful in confirming the diagnosis and understanding the inheritance pattern, but the absence of identified specific genes limits the utility of genetic tests. Prenatal diagnosis through [[Ultrasound]] imaging may detect polydactyly, but myopia can only be assessed after birth. | ||
==Management and Treatment== | ==Management and Treatment== | ||
Management of Polydactyly-Myopia Syndrome focuses on addressing the individual symptoms present in each case. Surgical intervention may be considered to remove or correct extra digits, especially if they interfere with function or cause discomfort. Myopia is typically managed with corrective lenses or contact lenses. Regular follow-up with a [[Pediatrician]] and an [[Ophthalmologist]] is recommended to monitor the child's development and vision. | Management of Polydactyly-Myopia Syndrome focuses on addressing the individual symptoms present in each case. Surgical intervention may be considered to remove or correct extra digits, especially if they interfere with function or cause discomfort. Myopia is typically managed with corrective lenses or contact lenses. Regular follow-up with a [[Pediatrician]] and an [[Ophthalmologist]] is recommended to monitor the child's development and vision. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with Polydactyly-Myopia Syndrome largely depends on the severity of the symptoms and the presence of any associated anomalies. With appropriate management, most individuals can lead normal, productive lives. | The prognosis for individuals with Polydactyly-Myopia Syndrome largely depends on the severity of the symptoms and the presence of any associated anomalies. With appropriate management, most individuals can lead normal, productive lives. | ||
==See Also== | ==See Also== | ||
* [[Genetic Disorders]] | * [[Genetic Disorders]] | ||
| Line 26: | Line 41: | ||
* [[Limb Development]] | * [[Limb Development]] | ||
* [[Visual Impairment]] | * [[Visual Impairment]] | ||
[[Category:Genetic Disorders]] | [[Category:Genetic Disorders]] | ||
[[Category:Congenital Disorders]] | [[Category:Congenital Disorders]] | ||
[[Category:Ophthalmology]] | [[Category:Ophthalmology]] | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 15:31, 8 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
| Polydactyly-myopia syndrome | |
|---|---|
| |
| Synonyms | |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Polydactyly, myopia, syndactyly, retinal detachment |
| Complications | N/A |
| Onset | |
| Duration | |
| Types | |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Clinical diagnosis, genetic testing |
| Differential diagnosis | |
| Prevention | |
| Treatment | Surgical correction, vision correction |
| Medication | |
| Prognosis | Variable, depending on severity |
| Frequency | Rare |
| Deaths | |
Polydactyly-Myopia Syndrome is a rare genetic disorder characterized by the presence of extra fingers or toes (Polydactyly) and nearsightedness (Myopia). This condition falls under the broader category of congenital anomalies of the limbs and visual impairment disorders. The syndrome is of significant interest in the fields of genetics, pediatrics, and ophthalmology due to its implications for understanding the genetic basis of limb development and vision anomalies.
Symptoms and Characteristics[edit]
The primary features of Polydactyly-Myopia Syndrome include:
- Polydactyly: Individuals with this syndrome may have extra fingers or toes. The polydactyly can be preaxial (before the thumb or big toe), postaxial (after the little finger or toe), or mesoaxial (central digits), and can vary in complexity from small, easily removable nubbins to fully formed, functional digits.
- Myopia: Affected individuals exhibit nearsightedness, a condition where distant objects appear blurry while close objects can be seen clearly. The severity of myopia can vary among individuals with the syndrome.
Other possible features of the syndrome may include skeletal anomalies, intellectual disability, and facial dysmorphism. However, these additional features are less consistently observed and may vary widely among affected individuals.
Genetics[edit]
Polydactyly-Myopia Syndrome is believed to be inherited in an Autosomal Dominant manner, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. However, due to the rarity of the syndrome, specific genes associated with the condition have not been conclusively identified. Research into the genetic basis of the syndrome is ongoing, with studies focusing on genes involved in limb development and eye formation.
Diagnosis[edit]
Diagnosis of Polydactyly-Myopia Syndrome is primarily based on clinical observation of the syndrome's characteristic features. Genetic testing may be helpful in confirming the diagnosis and understanding the inheritance pattern, but the absence of identified specific genes limits the utility of genetic tests. Prenatal diagnosis through Ultrasound imaging may detect polydactyly, but myopia can only be assessed after birth.
Management and Treatment[edit]
Management of Polydactyly-Myopia Syndrome focuses on addressing the individual symptoms present in each case. Surgical intervention may be considered to remove or correct extra digits, especially if they interfere with function or cause discomfort. Myopia is typically managed with corrective lenses or contact lenses. Regular follow-up with a Pediatrician and an Ophthalmologist is recommended to monitor the child's development and vision.
Prognosis[edit]
The prognosis for individuals with Polydactyly-Myopia Syndrome largely depends on the severity of the symptoms and the presence of any associated anomalies. With appropriate management, most individuals can lead normal, productive lives.
See Also[edit]
