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Synonyms of Dyschondrosteosis

  • Dwarfism, Deformity with Mesomelic
  • Leri-Weil Dyschondrosteosis
  • Leri-Weill Disease
  • Leri-Weil Syndrome
  • Mesomelic Dwarfism-Madelung Deformity

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Dyschondrosteosis is a very rare inherited disorder characterized by unusually shortened, bowed bones in the forearms (radius and ulna), abnormal deviation of the wrist toward the thumb side of the hand due to shortening of the radius and dislocation of the end portion of the ulna (Madelung deformity), unusually short lower legs, and associated short stature (mesomelic dwarfism). Affected individuals may also exhibit abnormalities of the large bone of the upper arm (humerus); abnormal bony growths projecting outward from the surface of the shin bones (exostoses of the tibia); unusually short, broad bones in the fingers and toes; and/or abnormalities of the hipbone (i.e., coxa valga). Dyschondrosteosis appears to affect females more severely than males. The disorder is inherited as an autosomal dominant or "pseudoautosomal" trait.


Individuals with dyschondrosteosis have abnormally short legs and associated mild short stature (mesomelic dwarfism). The degree of short stature varies from case to case.

Affected individuals also have an abnormality of the wrist known as Madelung deformity. In Madelung deformity, malformation (i.e., bowing and shortening) of the bones in the forearms (radius and ulna) and dislocation of the ulna results in abnormal deviation of the wrist toward the thumb side of the hand. In many cases, individuals with the disorder may have a limited range of movements of the wrists and elbows and/or may exhibit progressive degeneration, stiffness, tenderness, and pain of certain joints (osteoarthritis).

Additional symptoms found in individuals with dyschondrosteosis may include deformities of the large bone of the upper arm (humerus); an abnormal growths on the surface of the large bone in the middle of the lower leg (exostoses of the tibia); short, thick middle bones of the hand (metacarpals), fingers, and toes (phalanges); the forearm may be bent or twisted outward (cubitus valgus); a defect of the hip in which the thigh bone angles out to the side of the body (coxa valga); and/or a form of arthritis in which one or more of the large joints have tissue changes causing degeneration (osteoarthritis).


Dyschondrosteosis is inherited as an autosomal or pseudoautosomal dominant trait.

Human traits, including the classic genetic diseases, are the product of the interaction of a pair of matched genes, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.

Pseudoautosomal inheritance is an extremely rare occurrence that involves a gene from either the X or Y chromosome. Genes are found on chromosomes, which are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair that normally consists of an X and Y chromosome for males and two X chromosomes for females. Chromosomes 1 through 22 are known as autosomes; the X and Y chromosomes are known as sex chromosomes.

A gene on an autosome may be passed on to either a male or female child with equal likelihood. This is referred to as autosomal inheritance. However, the sex chromosomes (X and Y) are not passed on equally because a father transmits his X chromosome to his daughters and his Y chromosome to his sons. This is referred to as sex-linked inheritance.

A key aspect of sex-linked inheritance is the lack of matched gene pairs between X and Y chromosomes. However, very small areas of the X and Y chromosome have matched genes. During the normal division of reproductive (sex) cells (meiosis), these areas pair up and "cross over". The genes located in these areas transmit in a fashion similar to genes found on autosomes (pseudoautosomal inheritance).

Investigators have determined that some cases of dyschondrosteosis may be caused by disruption or changes (mutations) of the short stature homeobox (SHOX) gene located on the short arm of the X or Y chromosome.

Affected Populations

Dyschondrosteosis is a very rare disorder that can affect males or females. There have been more cases of dyschondrosteosis reported in females than in males by a 4:1 ratio, but some scientists believe that this is because females tend to have more severe symptoms.

Related Disorders

Symptoms of the following disorders can be similar to those of Dyschondrosteosis. Comparisons may be useful for a differential diagnosis:

Acrodysostosis is a rare disorder that is thought to be inherited through an autosomal dominant trait. Females are affected twice as often as males. This disorder is characterized by short hands and feet, stubby fingers and toes, broad short nails, a flat nasal bridge, an underdeveloped jaw, improper alignment of the teeth, widely spaced eyes, mental retardation, and deformity of the bones in the arms, legs and elbows. (For more information on this disorder choose "Acrodysostosis" as your search term in the Rare Disease Database.)

Ellis-Van Creveld Syndrome is a rare genetic disorder that is inherited through an autosomal recessive trait. This disorder is characterized by short limb dwarfism, additional fingers and/or toes (polydactyly), abnormal development of fingernails and, in over half of the cases, congenital heart defects. Ellis-Van Creveld Syndrome is a form of Ectodermal Dysplasia which is a group of disorders involving the skin, hair, teeth and nails.

Madelung Deformity due to Trauma or Infection is a partial dislocation of the bones of the forearm. It is not inherited but caused either by injury or infection. Short stature is not involved.

Langer Type Mesomelic Dysplasia is a rare form of dwarfism that affects males and females equally and is inherited through an autosomal recessive trait. People with this disorder typically have short, thick, curved bones of the radius (bone on the thumb side of the forearm) and tibia (larger of the two leg bones between the knee and ankle). Failure of growth or underdevelopment and bowing of the ulna (bone on the little finger side of the forearm) and fibula (smaller of the two bones in the leg between the knee and ankle) is also present. Other features of this disorder may be: restricted elbow and forearm movement, an underdeveloped jaw, and an abnormal degree of forward curvature of the lower back.

Nievergelt Type Mesomelic Dysplasia is a rare form of dwarfism that may be inherited through an autosomal dominant trait or it may occur for no apparent reason. Shortening of the limbs and restricted movement of the elbows and forearms are major features of this disorder. Unusual clubfeet (deformed feet that turn outward) and a condition in which two or more separate bones of the foot form a single bone (metatarsal synostosis) may also be present in patients with Nievergelt Type Mesomelic Dysplasia. This disorder affects males and females equally.

Reinhardt-Pfeiffer Type Mesomelic Dysplasia is a rare disorder that is thought to be inherited through an autosomal dominant trait and affects females more often than males. Patients with this disorder typically have underdeveloped bones of the forearm (ulna) and lower leg (fibula) as well as an abnormality of the wrist. Other features that patients may have are: lack of formation of the joint between the bones of the forearm, and bent or twisted feet.

Werner Type Mesomelic Dysplasia is a rare disorder that affects males and females equally and is inherited through an autosomal dominant trait. The large leg bone between the knee and ankle (tibia) is typically underdeveloped or absent and more than the normal number of fingers and/or toes (polydactyly) are present. Other features of this disorder are: absent thumbs, limited movement of the wrist and/or deformed ankle bones.

Robinow Syndrome is a rare disorder that is thought to be inherited through an autosomal dominant trait. This disorder is characterized by shortened fingers, toes and forearms, and moderately short stature. There may also be an enlarged head and forehead with widely spaced and prominent eyes (hypertelorism), a broad, short, upturned nose, triangular shaped mouth with a cleft lower lip, a small jaw and crowded teeth. (For more information on this disorder choose "Robinow Syndrome" as your search term in the Rare Disease Database.)

Standard Therapies

The treatment of dyschondrosteosis is symptomatic and supportive. Some individuals with dyschondrosteosis may have severe Madelung deformity of the wrist requiring orthopedic surgery to alleviate the pain and improve mobility.

Bone growth in individuals with dyschondrosteosis should be monitored regularly by a physician during the growth years. In severe cases, surgery may be chosen to equalize the length of the two legs.

Genetic counseling may be of benefit for affected individuals and their families.

Investigational Therapies

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

For information about clinical trials being conducted at the National Institutes of Health (NIH) 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:

Some children with dyschondrosteosis have been treated with growth hormone (GH) therapy. More research is necessary to determine the long-term safety and effectiveness of growth hormone therapy for individuals with dyschondrosteosis.

Organizations related to Dyschondrosteosis


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The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2008/05/19 00:00:00 GMT+0

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