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$Unique_ID{BRK03677}
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$Title{Dyggve-Melchior-Clausen Syndrome}
$Subject{Dyggve-Melchior-Clausen Syndrome DMC Disease DMC Syndrome
Smith-McCort Dwarfism Hurler Syndrome Morquio Syndrome Spondyloepiphyseal
Dysplasia Congenital Spondyloepiphyseal Dysplasia Tarda}
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Copyright (C) 1992 National Organization for Rare Disorders, Inc.

874:
Dyggve-Melchior-Clausen Syndrome

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

Synonyms

     DMC Disease
     DMC Syndrome

Disorder Subdivisions

Smith-McCort Dwarfism

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

     Hurler Syndrome
     Morquio Syndrome
     Spondyloepiphyseal Dysplasia, Congenital
     Spondyloepiphyseal Dysplasia Tarda

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.

Dyggve-Melchior-Clausen Syndrome is a rare disorder inherited through an
autosomal recessive trait.  Major symptoms may include short stature, mental
retardation, bulging of the chest sternum, flattening of the vertebrae and
upper border of the pelvis (iliac crest), shortening of the bones in the
middle portion of the hand (metacarpals) and changes in the long bones.
Patients with the Smith-McCort Dwarfism form of this disorder do not have
mental retardation.

Symptoms

Dyggve-Melchior-Clausen Syndrome is characterized by abnormal growth and
development of the skeleton and mental retardation.  Patients with this
disorder typically have short trunk dwarfism, mental retardation, a bulging
sternum, barrel chest, restricted movement of the joints, and a waddling
gait.

The bones in the middle of the hand (metacarpals) and short bones in the
fingers and toes (phalanges) are shorter than normal.  The vertebrae and upper
boarder of the pelvis are both flattened.  Curvature of the spine
(scoliosis), a hunchback (kyphosis), forward curvature of the spine
(lordosis), and/or knees twisted inward or outward (genu valga and vera).

Patients with the Smith-McCort Dwarfism form of Dyggve-Melchoir-Clausen
Syndrome have the same symptoms without mental retardation.

Patients with Dyggve-Melchior-Clausen Syndrome have normal excretion of
mucopolysaccharides.  Laboratory tests can rule out the Mucopolysaccharidoses
(MPS) disorders which can have similar symptoms (see the related disorder
section of this report).

Causes

Dyggve-Melchior-Clausen Syndrome is inherited through an autosomal recessive
trait.  (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 recessive disorders, the condition does not appear
unless a person inherits the same defective gene for the same trait from each
parent.  If one receives one normal gene and one gene for the disease, the
person will be a carrier for the disease, but usually will not show symptoms.
The risk of transmitting the disease to the children of a couple, both of
whom are carriers for a recessive disorder, is twenty-five percent.  Fifty
percent of their children will be carriers, but healthy as described above.
Twenty-five percent of their children will receive both normal genes, one
from each parent, and will be genetically normal.)

Affected Population

Dyggve-Melchior-Clausen Syndrome is a very rare disorder that affects males
and females in equal numbers.  Cases have been reported in Greenland,
Lebanon and Norway.

Related Disorders

Symptoms of the following disorders can be similar to those of Dyggve-
Melchior-Clausen Syndrome.  Comparisons may be useful for a differential
diagnosis:

Hurler Syndrome is a rare form of mucopolysaccharidosis (MPS) that is
inherited through an autosomal recessive trait.  Unlike Dyggve-Melchior-
Clausen Syndrome, this disorder is caused by a deficiency of one of the ten
lysosomal enzymes.  This deficiency results in an inability to metabolize
complex carbohydrates (mucopolysaccharides) into simple molecules.  The
accumulation of these undegraded complex carbohydrates in the cells of the
body causes symptoms such as skeletal abnormalities, poor growth, coarse
facial features, clouding of the cornea, enlarged liver and spleen, joint
stiffness and a prominent forehead.  There are three forms of Hurler Syndrome
with varying severity.  (For more information on this disorder, choose
"Hurler" as your search term in the Rare Disease Database).

Morquio Syndrome is another a rare form of MPS that is inherited through
an autosomal recessive trait.  This disorder is also caused by a deficiency
of one of the ten lysosomal enzymes resulting in an inability to metabolize
complex carbohydrates (mucopolysaccharides) into simple molecules.  The
accumulation of these undegraded complex carbohydrates in the cells of the
body causes symptoms such as abnormalities of the head, chest, hands, knees
and spine.  There are two forms of this disorder:  Morquio Syndrome A and
Morquio Syndrome B.  The skeletal abnormalities in Morquio Syndrome B are
milder than those in Morquio Syndrome A.  (For more information on this
disorder, choose "Morquio" as your search term in the Rare Disease Database).

Congenital Spondyloepiphyseal Dysplasia (SED) is a rare disorder
inherited through an autosomal dominant trait.  Symptoms of this disorder
include short-trunk dwarfism, a barrel chest, nearsightedness, and a waddling
gait due to misaligned knees.  Hands and feet appear normal, and patients
with SED usually have normal intelligence.  (For more information on this
disorder, choose "Congenital Spondyloepiphyseal Dysplasia" as your search
term in the Rare Disease Database).

Spondyloepiphyseal Dysplasia Tarda is a rare disorder predominantly
inherited through an X-linked trait although there have been reported cases
of autosomal recessive and autosomal dominant inheritance.  Spinal growth
appears to stop between the ages of 5 and 10 years.  The shoulders assume a
hunched appearance, the neck appears to become shorter and the chest
broadens.  As adults, patients with this disorder have a mild case of
dwarfism with a short trunk, large chest cage and relatively normal limb
length.  (For more information on this disorder, choose "Spondyloepiphyseal
Dysplasia Tarda" as your search term in the Rare Disease Database.)

Therapies:  Standard

Treatment of Dyggve-Melchior-Clausen Syndrome is symptomatic and supportive.
When partial dislocation of the segments of the spinal column at the top of
the spine (cervical vertebrae) is present, the joint between the two
vertebrae can be fused together.  This procedure should be done in order to
prevent damage to the cervical part of the spinal chord.

Children with Dyggve-Melchior-Clausen Syndrome may benefit from early
intervention programs and special education.

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
April 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 Dyggve-Melchior-Clausen Syndrome, please contact:

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

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

     Parents of Dwarfed Children
     11524 Colt Terr.
     Silver Spring, MD  20902

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. 1151.

SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.:  Kenneth L.
Jones, M.D., Editor; W.B. Saunders Co., 1988.  Pp. 315.

BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990.  Pp. 563-64.

THE DYGGVE-MELCHIOR-CLAUSEN SYNDROME:  S. Scorr, et al.; AJR Am J
(January 1977, issue 128(1)).  Pp.  107-13.

THE DYGGVE-MELCHIOR-CLAUSEN SYNDROME:  J. Naffah; Am J Hum Genet
(November 1976, issue 28(6)).  Pp.  607-14.

DYGGVE-MELCHIOR-CLAUSEN SYNDROME.  A HISTICHEMICAL STUDY OF THE GROWTH
PLATE:  W.A. Horton, et al.; J Bone Joint Surg (March 1982, issue 64(3)).
Pp.  408-15.

THE DYGGVE-MELCHIOR SYNDROME:  J. Spranger, et al.; Radiology (February
1975, issue 114(2)).  Pp.  415-21.

DYGGVE-MELCHIOR-CLAUSEN SYNDROME:  GENETIC STUDIES AND REPORT OF AFFECTED
SIBS:  S.P. Toledo, et al.; Am J Med Genet (1979, issue 4(3)).  Pp.  255-61.

THE DYGGVE-MELCHIOR-CLAUSEN SYNDROME:  R.L. Kaufman, et al.; Birth
Defects (February 1971, issue 7(1)).  Pp.  144-9.

HETEROGENEITY OF DYGGVE-MELCHIOR-CLAUSEN DWARFISM:  J. Spranger, et al.;
Hum Genet (August 30, 1976, issue 33(3)).  Pp.  279-87.