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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Acromicric dysplasia


Other Names for this Disease

  • Acromicric skeletal dysplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is acromicric dysplasia?

What are the signs and symptoms of acromicric dysplasia?

How is acromicric dysplasia inherited?

How might acromicric dysplasia be treated?

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.[1] It has recently been found to be caused by mutations in the FBN1 gene and is inherited in an autosomal dominant manner.[2] The prognosis for affected individuals is good; no major complications appear to occur in affected individuals and life expectancy is normal.[1]
Last updated: 1/30/2012

What are the signs and symptoms of acromicric dysplasia?

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.[3] 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.[1] As affected individuals age, the distinctive facial characteristics typically become less obvious.[3] Other features that occasionally occur in affected individuals include well-developed muscles; a hoarse voice; frequent ear, tracheal, and respiratory infections; and spine abnormalities.[1] Life expectancy is normal.[1]
Last updated: 1/30/2012

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.[1][2] An affected individual has a 50% (1 in 2) risk to pass the condition on to each of of his/her children.
Last updated: 1/30/2012

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.[3] The prognosis for affected individuals is good; no major complications appear to occur in the course of the disease and life expectancy is normal.[1]
Last updated: 1/30/2012

References
  1. L. Faivre-Olivier. Acromicric dysplasia. Orphanet. May 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=969. Accessed 1/25/2012.
  2. Marla J. F. O'Neill. ACROMICRIC DYSPLASIA; ACMICD. OMIM. August 22, 2011; http://omim.org/entry/102370. Accessed 1/30/2012.
  3. Acromicric Dysplasia. NORD. August 8, 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1078/viewAbstract. Accessed 1/30/2012.


Other Names for this Disease
  • Acromicric skeletal dysplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.