CD-ROM Today 1996 January/CD-ROM Today 1996 January.iso/dp/0367/03679.txt

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$Unique_ID{BRK03679}
$Pretitle{}
$Title{Dyschondrosteosis}
$Subject{Dyschondrosteosis Dwarfism Deformity with Mesomelic Leri-Weill
Disease Leri-Weil Dyschondrosteosis Leri-Weil Syndrome Mesomelic
Dwarfism-Madelung Deformity Acrodysostosis Ellis-Van Creveld Syndrome Madelung
Deformity trauma infection Mesomelic Dysplasia Langer Type Mesomelic Dysplasia
Nievergelt Type Mesomelic Dysplasia Reinhardt-Pfeiffer Type Mesomelic
Dysplasia Werner Type Robinow Syndrome}
$Volume{}
$Log{}

Copyright (C) 1992 National Organization for Rare Disorders, Inc.

888:
Dyschondrosteosis

** IMPORTANT **
It is possible that the main title of the article (Dyschondrosteosis) is
not the name you expected.  Please check the SYNONYMS listing to find the
alternate name and disorder subdivisions covered by this article.

Synonyms

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

Information on the following diseases can be found in the Related
Disorders section of this report:

     Acrodysostosis
     Ellis-Van Creveld Syndrome
     Madelung Deformity due to trauma or infection
     Mesomelic Dysplasia, Langer Type
     Mesomelic Dysplasia, Nievergelt Type
     Mesomelic Dysplasia, Reinhardt-Pfeiffer Type
     Mesomelic Dysplasia, Werner Type
     Robinow Syndrome

General Discussion

** REMINDER **
The Information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.

Dyschondrosteosis is a rare disorder that is inherited through an
autosomal dominant trait.  Male-to-male transmission has been observed in
multiple cases.  The major features of this disorder are a deformity of the
wrist called Madelung Deformity and abnormally short forearms and lower legs
(mesomelic short stature).

Symptoms

People with Dyschondrosteosis have a deformity of the wrist in which the
forearm and wrist are bowed.  There is partial dislocation of the bones of
the forearm (radius and ulnar) due to a curvature of the lower radius
(Madelung Deformity).  This condition can cause limited mobility of the elbow
and wrist.

Abnormally short forearms and lower legs (Mesomelic Short Stature) are
another feature of Dyschondrosteosis.

When one or more family member has both Madelung Deformity and Mesomelic
Short Stature, a relative who has the wrist deformity without the short
stature is also considered to have Dyschondrosteosis.

Other symptoms found in patients with Dyschondrosteosis may be:
deformities of the large bone of the upper arm (humerus); an abnormal growth
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).

Causes

Dyschondrosteosis is inherited through an autosomal dominant trait.  Male to
male transmission (father to son) has also been recorded in the medical
literature.

Human traits, including the classic genetic diseases, are the product of
the interaction of two 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 fifty percent
for each pregnancy regardless of the sex of the resulting child.

Affected Population

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 but some scientists feel that this is due to the fact that 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).

Therapies:  Standard

Patients with Dyschondrosteosis may have severe Madelung deformity of the
wrist requiring orthopedic surgery to alleviate the pain and enable mobility.

Bone growth in patients with Dyschondrosteosis should be monitored
regularly during the growth period by a physician.  In severe cases surgery
may be performed to equalize the length of the two legs.

Genetic counseling may be of benefit for patients and their families.

Therapies:  Investigational

Research on birth defects and their causes is ongoing.  The National
Institutes of Health (NIH) is sponsoring the Human Genome Project which is
aimed at mapping every gene in the human body and learning why they sometimes
malfunction.  It is hoped that this new knowledge will lead to prevention and
treatment of genetic disorders in the future.

This disease entry is based upon medical information available through
January 1992.  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.

Resources

For more information on Dyschondrosteosis, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     International Center for Skeletal Dysplasia
     St. Joseph Hospital
     7620 York Road
     Towson, MD  21204
     [phone]

     The Magic Foundation
     1327 N. Harlem Ave.
     Oak Park, IL  60302
     [phone]

     Human Growth Foundation (HGF)
     7777 Leesburg Pike
     P.O. Box 3090
     Falls Church, VA  22043
     [phone]
     [phone]

     Little People of America
     P.O. Box 633
     San Bruno, CA  94066
     [phone]

     Parents of Dwarfed Children
     11524 Colt Terrace
     Silver Spring, MD  20902

     Short Stature Foundation
     17200 Jamboree Rd., Suite J
     Irvine, CA  92714-5828
     [phone]
     800-24 DWARF

     NIH/National Institute of Child Health and Human Development (NICHHD)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]

For Genetic Information and Genetic Counseling Referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY 10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References

MENDELIAN INHERITANCE IN MAN, 9th Ed.:  Victor A. McKusick, Editor:  Johns
Hopkins University Press, 1990.  Pp. 274.

SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.:  Kenneth L.
Jones, M.D., Editor; W.B. Saunders Co., 1988.  Pp. 388.

BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990.  Pp. 565-566.

DYSCHONDROSTEOSIS AND MADELUNG'S DEFORMITY.  REPORT OF THREE KINDREDS AND
REVIEW OF THE LITERATURE:  R.K. Beals, et al.;  Clin Orthop (May, 1976, issue
(116)).  Pp. 24-8.

SEX-INFLUENCED EXPRESSION OF MADELUNG'S DEFORMITY IN A FAMILY OF
DYSCHONDROSTEOSIS:  J.R. Lichtenstein, et al.;  J Med Genet (February, 1980,
issue 17(1)).  Pp. 41-3.

MADELUNG'S DEFORMITY AND DYSCHONDROSTEOSIS:  R.H. Gelberman, et al,;  J
Hand Surg (July, 1980, issue 5(4)).  Pp. 338-40.