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Don’t fight Acromicric dysplasia alone.
Find your community on the free RareGuru App.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.
Source: GARD Last updated on 05-01-20
Acromicric dysplasia usually first becomes apparent during late infancy. It is mainly characterized by abnormally short hands and feet, short stature, and mild facial abnormalities. Certain bones in the hands, fingers, feet and toes are abnormally short and stubby (brachydactyly). The long bones of the arms and legs may also be abnormally short. In some cases, individuals may have a malformation of the thigh bone (femur). Most affected individuals described in the medical literature have reached an average adult height of about four feet. Characteristic facial features that have been reported include a round face; narrow palpebral fissures; well-defined eyebrows; long eyelashes; a bulbous nose with anteverted nostrils; a long and prominent philtrum; and thick lips with a small mouth. As affected individuals age, the distinctive facial characteristics typically become less obvious. Other features that occasionally occur in affected individuals include well-developed muscles; a hoarse voice; frequent ear, tracheal, and respiratory infections; and spine abnormalities. Life expectancy is normal.
Last updated on 05-01-20
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
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
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
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
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
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
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