Acromicric dysplasia

How is acromicric dysplasia inherited?

Acromicric dysplasia is inherited in an autosomal dominant manner. This means that only one abnormal copy of the disease-causing gene is sufficient to cause the disorder. Not all affected individuals inherit the condition from an affected parent. In most cases, the condition results from a new mutation that occurs for the first time in an affected individual. An affected individual has a 50% (1 in 2) risk to pass the condition on to each of of his/her children.

Last updated on 05-01-20

What is acromicric dysplasia?

Acromicric dysplasia is a rare type of skeletal dysplasia characterized by abnormal bone growth. Signs and symptoms include short stature, short hands and feet, mildly distinctive facial features, characteristic X-ray abnormalities of the hands, and other features that occasionally occur. Intelligence is normal. It has recently been found to be caused by mutations in the FBN1 gene and is inherited in an autosomal dominant manner. The prognosis for affected individuals is good; no major complications appear to occur in affected individuals and life expectancy is normal.

Last updated on 05-01-20

How many individuals have acromicric dysplasia?

The prevalence of acromicric dysplasia is not known. As of 2006, less than 40 affected individuals had been reported in the medical literature.

Last updated on 05-01-20

Is growth hormone therapy used for treating the short stature associated with acromicric dysplasia?

We were unable to locate information about the use of growth hormone (GH) therapy for the treatment of acromicric dysplasia. A study by Kanazawa et al in 2003 looked at the efficacy of growth hormone therapy for patients with other types of skeletal dysplasia (not including acromicric dysplasia) and found that in some types, GH had a significant effect on height gain; however, in other types, GH was not beneficial. The authors concluded that for individuals with skeletal dysplasia, GH therapy is moderately effective for height gain. They also stated that careful consideration of indications for therapy, and cautious observation during therapy, are crucial when attempting to treat advanced bone deformities. It should not be assumed that results from this study necessarily pertain to individuals with acromicric dysplasia. Individuals interested in learning about the potential role of GH therapy for themselves or family members should consult with their health care providers.

Last updated on 05-01-20

What is the average adult height for individuals with acromicric dysplasia?

The average adult height in individuals with acromicric dysplasia is approximately 130 cm (133 cm in males, 129 cm in females).

Last updated on 05-01-20

How might acromicric dysplasia be treated?

Treatment of acromicric dysplasia focuses on the specific signs and symptoms that are present in each individual; it is generally symptomatic and supportive. The prognosis for affected individuals is good; no major complications appear to occur in the course of the disease and life expectancy is normal.

Last updated on 05-01-20

Name: European Skeletal Dysplasia Network Institute of Genetic Medicine Newcastle University
International Centre for Life Central Parkway New Castle upon Tyne
NE1 3BZ, United Kingdom
Email: info@esdn.org Url: http://www.esdn.org/eug/Home
Name: Greenberg Center for Skeletal Dysplasias Johns Hopkins University Institute of Genetic Medicine
600 North Wolfe Street Blalock 1008
Baltimore, MD, 21287, United States
Phone: 410-614-0977 Email: deedee@jhmi.edu Url: http://www.hopkinsmedicine.org/institute-genetic-medicine/patient-care/genetics-clinic/about/greenberg-center-skeletal-dysplasia/
Name: Human Growth Foundation 997 Glen Cove Avenue, Suite 5
Glen Head, NY, 11545, United States
Toll Free: 1-800-451-6434 Fax : 516-671-4055 Email: hgf1@hgfound.org Url: http://www.hgfound.org/
Name: European Skeletal Dysplasia Network Institute of Genetic Medicine Newcastle University
International Centre for Life Central Parkway New Castle upon Tyne
NE1 3BZ, United Kingdom
Email: info@esdn.org Url: http://www.esdn.org/eug/Home

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