Acromicric dysplasia
Acromicric dysplasia is a rare genetic disorder that primarily affects the skeletal system.
Pronunciation
The term "Acromicric dysplasia" is pronounced as "ak-ro-mik-rik dis-pla-zi-a".
Etymology
The term "Acromicric dysplasia" is derived from the Greek words "akros" meaning "extreme" or "end", "mikros" meaning "small", and "dysplasia" meaning "abnormal growth or development".
Definition
Acromicric dysplasia is a condition characterized by abnormally short stature, short hands and feet, mild facial abnormalities, and certain skeletal features.
Symptoms
The symptoms of Acromicric dysplasia include short stature, facial abnormalities, skeletal abnormalities, and joint stiffness.
Causes
Acromicric dysplasia is caused by mutations in the FBN1 gene. This gene provides instructions for producing a protein called fibrillin-1.
Diagnosis
Diagnosis of Acromicric dysplasia is based on physical examination, genetic testing, and radiographic findings.
Treatment
There is currently no cure for Acromicric dysplasia. Treatment is symptomatic and supportive, and may include physiotherapy and surgery to correct skeletal abnormalities.
Prognosis
The prognosis for individuals with Acromicric dysplasia varies. Most individuals have normal intelligence and can lead a normal life with appropriate management of their symptoms.
See also
External links
- Medical encyclopedia article on Acromicric dysplasia
- Wikipedia's article - Acromicric dysplasia
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