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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.
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.
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.
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.
Symptoms of the following disorders can be similar to those of Acromicric Dysplasia. Comparisons may be useful for a differential diagnosis:
Acrodysostosis is an extremely rare disorder characterized by abnormally short, malformed bones in the hands and feet (peripheral dysostosis), underdevelopment of the nose (nasal hypoplasia), and mental retardation. Other findings may include progressive growth delays, short stature, and/or additional abnormalities of the head and facial (craniofacial) area. Affected infants may exhibit early (premature) maturation of bones in the hands and feet, malformation and shortening of the forearm bones (radius and ulna) near the wrist, and/or abnormally short fingers and toes (brachydactyly). Characteristic facial features may include a flattened, underdeveloped (hypoplastic) "pug" nose, an underdeveloped upper jaw bone (maxilliary hypoplasia), widely spaced eyes (ocular hypertelorism), and/or an extra fold of skin on either side of the nose that may cover the eyes' inner corners (epicanthal folds). In most cases, Acrodysostosis is thought to occur randomly, for no apparent reason (sporadic). (For more information on this disorder, choose "Acrodysostosis" as your search term in the Rare Disease Database.)
Leri Pleonosteosis is an extremely rare inherited disorder characterized by unusual, flattened facial features, abnormalities of the hands and feet, skeletal malformations, short stature, and/or limitation of joint movements. Characteristic abnormalities may include abnormally short broad fingers (brachydactyly); as a result, the hands may have a "spade-shaped" appearance. In addition, the toes may also be abnormally short and the great toes may be bent outward from the body (valgus position). Skeletal malformations may include knees that are bent backward (genu recurvitum) and abnormal enlargement of the cartilaginous structures that surround the upper portion of the spinal cord (posterior neural arches of the cervical vertebrae). In addition, affected individuals may develop thickened tissue on the palms (palmar) and forearms. Symptoms may vary from case to case. Leri Pleonosteosis is inherited as an autosomal dominant genetic trait. (For more information on this disorder, choose "Leri Pleonosteosis" as your search term in the Rare Disease Database.)
Acromesomelic Dwarfism, also known as Acromesomelic Dysplasia, is a rare genetic disorder characterized by short stature and abnormally short hands and feet (brachydactyly). Certain bones of the hands (metacarpals), feet (metatarsals), and/or arms (radius) may be abnormally short and/or malformed. Characteristic facial features may include a short "pug" nose and/or an abnormally prominent of the forehead (frontal bossing). In some cases, affected individuals may exhibit front-to-back curvature of the spine (kyphosis). Acromesomelic Dwarfism is thought to be inherited as an autosomal recessive genetic trait.
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.
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.
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
For information about clinical trials sponsored by private sources, contact:
(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., short stature].)
Buyce ML, ed. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications; For: The Center for Birth Defects Information Services Inc; 1990:51-52.
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.
McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:102370; Last Update:3/11/94.
Report last updated: 2007/08/08 00:00:00 GMT+0