Alopecia contractures dwarfism intellectual disability syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Alopecia-contractures-dwarfism-intellectual disability syndrome | |||
| synonyms = [[ACDID syndrome]] | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Alopecia]], [[contractures]], [[dwarfism]], [[intellectual disability]] | |||
| onset = [[Congenital]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] | |||
| risks = [[Family history]] | |||
| diagnosis = [[Clinical evaluation]], [[genetic testing]] | |||
| differential = [[Other genetic syndromes]] | |||
| treatment = [[Supportive care]], [[physical therapy]], [[special education]] | |||
| prognosis = [[Variable]] | |||
| frequency = [[Rare]] | |||
}} | |||
'''Alopecia Contractures Dwarfism Intellectual Disability Syndrome''' (ACDID) is a rare [[genetic disorder]] characterized by a combination of distinct physical features and cognitive impairments. The syndrome is also known as '''ACDID Syndrome''' or '''Al Kaissi Syndrome'''. | '''Alopecia Contractures Dwarfism Intellectual Disability Syndrome''' (ACDID) is a rare [[genetic disorder]] characterized by a combination of distinct physical features and cognitive impairments. The syndrome is also known as '''ACDID Syndrome''' or '''Al Kaissi Syndrome'''. | ||
== Symptoms and Signs == | == Symptoms and Signs == | ||
The primary symptoms of ACDID Syndrome include [[alopecia]], which is a condition causing hair loss; [[contractures]], which are permanent shortening of muscles or joints; [[dwarfism]], which refers to short stature; and [[intellectual disability]], which involves problems with mental abilities and functioning. | The primary symptoms of ACDID Syndrome include [[alopecia]], which is a condition causing hair loss; [[contractures]], which are permanent shortening of muscles or joints; [[dwarfism]], which refers to short stature; and [[intellectual disability]], which involves problems with mental abilities and functioning. | ||
== Causes == | == Causes == | ||
ACDID Syndrome is a genetic disorder, which means it is caused by abnormalities in the individual's [[genes]]. The specific genetic mutation responsible for ACDID Syndrome is currently unknown. It is believed to be inherited in an [[autosomal recessive]] manner, which means both parents must carry a copy of the mutated gene to pass the disorder onto their child. | ACDID Syndrome is a genetic disorder, which means it is caused by abnormalities in the individual's [[genes]]. The specific genetic mutation responsible for ACDID Syndrome is currently unknown. It is believed to be inherited in an [[autosomal recessive]] manner, which means both parents must carry a copy of the mutated gene to pass the disorder onto their child. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of ACDID Syndrome is based on the presence of the characteristic physical features and cognitive impairments. Genetic testing may also be used to confirm the diagnosis and identify the specific genetic mutation. | Diagnosis of ACDID Syndrome is based on the presence of the characteristic physical features and cognitive impairments. Genetic testing may also be used to confirm the diagnosis and identify the specific genetic mutation. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for ACDID Syndrome. Treatment is focused on managing the symptoms and improving the quality of life for individuals with the disorder. This may include physical therapy for contractures, special education services for intellectual disability, and wigs or other cosmetic solutions for alopecia. | There is currently no cure for ACDID Syndrome. Treatment is focused on managing the symptoms and improving the quality of life for individuals with the disorder. This may include physical therapy for contractures, special education services for intellectual disability, and wigs or other cosmetic solutions for alopecia. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with ACDID Syndrome varies depending on the severity of the symptoms. With appropriate management and support, individuals with the disorder can lead fulfilling lives. | The prognosis for individuals with ACDID Syndrome varies depending on the severity of the symptoms. With appropriate management and support, individuals with the disorder can lead fulfilling lives. | ||
== See Also == | == See Also == | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
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* [[Dwarfism]] | * [[Dwarfism]] | ||
* [[Intellectual disability]] | * [[Intellectual disability]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
{{stub}} | {{stub}} | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
Latest revision as of 01:24, 4 April 2025
| Alopecia-contractures-dwarfism-intellectual disability syndrome | |
|---|---|
| Synonyms | ACDID syndrome |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Alopecia, contractures, dwarfism, intellectual disability |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history |
| Diagnosis | Clinical evaluation, genetic testing |
| Differential diagnosis | Other genetic syndromes |
| Prevention | N/A |
| Treatment | Supportive care, physical therapy, special education |
| Medication | N/A |
| Prognosis | Variable |
| Frequency | Rare |
| Deaths | N/A |
Alopecia Contractures Dwarfism Intellectual Disability Syndrome (ACDID) is a rare genetic disorder characterized by a combination of distinct physical features and cognitive impairments. The syndrome is also known as ACDID Syndrome or Al Kaissi Syndrome.
Symptoms and Signs[edit]
The primary symptoms of ACDID Syndrome include alopecia, which is a condition causing hair loss; contractures, which are permanent shortening of muscles or joints; dwarfism, which refers to short stature; and intellectual disability, which involves problems with mental abilities and functioning.
Causes[edit]
ACDID Syndrome is a genetic disorder, which means it is caused by abnormalities in the individual's genes. The specific genetic mutation responsible for ACDID Syndrome is currently unknown. It is believed to be inherited in an autosomal recessive manner, which means both parents must carry a copy of the mutated gene to pass the disorder onto their child.
Diagnosis[edit]
Diagnosis of ACDID Syndrome is based on the presence of the characteristic physical features and cognitive impairments. Genetic testing may also be used to confirm the diagnosis and identify the specific genetic mutation.
Treatment[edit]
There is currently no cure for ACDID Syndrome. Treatment is focused on managing the symptoms and improving the quality of life for individuals with the disorder. This may include physical therapy for contractures, special education services for intellectual disability, and wigs or other cosmetic solutions for alopecia.
Prognosis[edit]
The prognosis for individuals with ACDID Syndrome varies depending on the severity of the symptoms. With appropriate management and support, individuals with the disorder can lead fulfilling lives.
See Also[edit]
References[edit]
<references />
