Alopecia contractures dwarfism intellectual disability syndrome
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
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
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 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
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
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
References
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