Acromicric Dysplasia

Acromicric Dysplasia

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Acromicric Dysplasia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Acromicric Skeletal Dysplasia

Disorder Subdivisions

  • None

General Discussion

Acromicric Dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation leading to short stature, and mild facial abnormalities. Most cases have occurred randomly for no apparent reason (sporadically). However, autosomal dominant inheritance has not been ruled out.

Symptoms

Acromicric Dysplasia is an extremely rare inherited disorder that usually becomes apparent during late infancy. It is characterized by abnormally short hands and feet, growth delays leading to short stature, and mild facial abnormalities.



Infants with Acromicric Dysplasia exhibit severe shortening of hands and feet. Certain bones in the hands and fingers (i.e., metacarpals and phalanges) as well as the feet and toes (i.e., metatarsals and phalanges) are abnormally short and stubby (brachydactyly). In addition, certain bones in the middle of the hand (metacarpals) may taper downward forming a point (with the exception of the thumb), while bones in the toes (phalanges) may be abnormally "cone shaped" (epiphyseal coning). The long bones (i.e., those of the arms and legs) may also be abnormally short and, in some cases, individuals may exhibit malformation of the end portion (head) of the thigh bone (femur).



By early childhood, growth retardation and delayed bone maturation eventually result in short stature (dwarfism). Most affected individuals described in the medical literature attained an average adult height of about four feet (120 centimeters).



Infants with Acromicric Dysplasia may also exhibit mild abnormalities of the face including an abnormally narrow opening between the upper and lower eyelids (palpebral fissures) and an abnormally short nose with upturned nostrils (anteverted).



As affected individuals age, facial abnormalities become less obvious. Some adults with Acromicric Dysplasia have developed carpal tunnel syndrome.

Causes

Acromicric Dysplasia is an extremely rare disorder that, in most cases, appears to occur randomly for no apparent reason (sporadically). However, autosomal dominant inheritance has not been ruled out.

Affected Populations

Acromicric Dysplasia is an extremely rare disorder that, in theory, affects males and females in equal numbers. Only a very small number of cases have been reported in the medical literature.

Standard Therapies

Diagnosis

Acromicric Dysplasia may be diagnosed based upon a thorough clinical evaluation, characteristic physical findings (e.g., abnormally short hands), a detailed patient history, and a variety of specialized tests such as advanced imaging techniques. X-rays may reveal characteristic abnormalities of the bones in the hands and feet (e.g., abnormally short broad phalanges, metacarpals, and metatarsals; epiphyseal coning of the phalanges in the toes; pointing of the last four metacarpals; and the presence of an abnormal notch on the radial side of the 2nd metacarpal and ulnar side of the 5th metacarpal). The removal and study of cartilage cells (biopsy) under a microscope may reveal distinctive abnormalities affecting the growth cartilage. These abnormalities may include disorganization of the "growing" portion of certain bones, especially abnormal organization of cells that form cartilage (chondrocytes) and of a protein substance (collagen) that forms fibers within the ligaments, tendons, and connective tissue. In addition, an abnormally high number of such cells may demonstrate degeneration.



Treatment

The treatment of Acromicric Dysplasia is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, specialists who diagnose and treat skeletal abnormalities (orthopedists), physical therapists, and/or other health care professionals may need to systematically and comprehensively plan an affected child's treatment.



Genetic counseling will be of benefit for affected individuals and their families. Other treatment for this disorder is symptomatic and supportive.

Investigational Therapies

This disease entry is based upon medical information available through August 2007. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.



Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOKS

Buyce ML, ed. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications; For: The Center for Birth Defects Information Services Inc; 1990:51-52.



JOURNAL ARTICLES

Faivre L, et al. Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance. J Med Genet. 2001;38:745-49.



Maroteaux P, et al. Acromicric dysplasia. Am J Med Genet. 1986;24:447-59.



Winter RM, et al. Moore-federman syndrome and acromicric dysplasia: are they the same entity? J Med Genet. 1989;26:320-25.



INTERNET

McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:102370; Last Update:3/11/94.

Resources

Human Growth Foundation

997 Glen Cove Avenue

Suite 5

Glen Head, NY 11545

Tel: (516)671-4041

Fax: (516)671-4055

Tel: (800)451-6434

Email: hgf1@hgfound.org

Internet: http://www.hgfound.org/



MAGIC Foundation

6645 W. North Avenue

Oak Park, IL 60302

Tel: (708)383-0808

Fax: (708)383-0899

Tel: (800)362-4423

Email: mary@magicfoundation.org

Internet: http://www.magicfoundation.org



Little People of America, Inc.

250 El Camino Real Suite 201

Tustin, CA 92780

Tel: (714)368-3689

Fax: (714)368-3367

Tel: (888)572-2001

Email: info@lpaonline.org

Internet: http://www.lpaonline.org/



Coalition for Heritable Disorders of Connective Tissue (CHDCT)

4301 Connecticut Avenue, NW Suite 404

Washington, DC 20008

Tel: (202)362-9599

Fax: (202)966-8553

Tel: (800)778-7171

Email: chdct@pxe.org

Internet: http://www.chdct2.org/



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use . How this information was developed to help you make better health decisions.

Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.