$Unique_ID{BRK04232}
$Pretitle{}
$Title{Spondyloepiphyseal Dysplasia, Congenital}
$Subject{Spondyloepiphyseal Dysplasia Congenital SED Congenital
Pseudoachondroplasia }
$Volume{}
$Log{}

Copyright (C) 1986, 1987, 1989 National Organization for Rare Disorders, Inc.

293:
Spondyloepiphyseal Dysplasia, Congenital

** IMPORTANT **
It is possible the main title of the article (Congenital
Spondyloepiphyseal Dysplasia) is not the name you expected.  Please check the
SYNONYMS listing to find the alternate names and disorder subdivisions.

Synonyms

     SED Congenital
     Pseudoachondroplasia

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.


Congenital Spondyloepiphyseal Dysplasia, also known as SED Congenita, is
a rare hereditary disorder characterized by dwarfism and abnormal bone
development.

Symptoms

SED Congenital is usually detectable at birth.  Symptoms include flat facial
features, myopia (near-sightedness) or retinal detachment, short-trunk
dwarfism and barrel-chestedness.  Also, the knees often tend to be
misaligned, pointing either outward or inward, so patients often have a
waddling gait.  Hands and feet appear normal, and patients with SED
Congenital usually have normal intelligence; in general, patients may reach
an adult height of 84 to 128 cm.

In some cases, the characteristic symptoms of the disorder may lead to
further complications.  For instance, retinal detachment may result in severe
vision impairment, possibly blindness.  Compression of the spinal cord may
result from stress placed on the lax ligaments which are a symptom of SED
Congenital, possibly leading to muscle weakness.

Finally, backward and lateral extension of the spinal column
(kyphoscoliosis), hyperextensible finger joints and joint dislocation can all
further complicate the effects of the disorder.

Causes

SED Congenital has an autosomal dominant inheritance, with great variability
in the actual manifestation of symptoms.  That is, in order for a child to
inherit the disorder, one or both parents must also have it, though there may
be a difference in the degree to which parent and child display the symptoms
of SED Congenita.  (In autosomal dominant disorders, a single abnormal gene,
contributed by either parent, "overrides" the normal gene contributed by the
other parent causing disease.  Individuals with one affected parent have a
50% chance of inheriting the disorder.)

Affected Population

SED Congenital affects males and females in equal numbers; roughly 1 in
100,000 live births will manifest this disorder.

Related Disorders

Spondyloepiphyseal Dysplasia Tarda is a hereditary disorder that primarily
affects males, and is characterized by dwarfism and hunched-up appearance of
the spine.  Evidence of abnormal growth in this X-linked recessive inherited
disorder only becomes evident at 5 to 10 years of age.  (For more
information, choose "SED Tarda" as your search term in the Rare Disease
Database.)

Morquio Syndrome or Mucopolysaccharidosis IV (MPS Type IV) is a
hereditary disorder characterized by retarded growth, backward and lateral
extension of the spinal column (kyphoscoliosis), outwardly directed knees,
corneal clouding, deafness, and a heart disorder in which blood flows
backward from the aorta back into the left ventricle of the heart (aortic
regurgitation).  Weakness in the legs may often result from the skeletal
abnormalities symptomatic of the disorder, and paraplegia may result.  Like
SED Congenital, Morquio Syndrome affects males and females equally.  (For
more information, choose "Morquio" as your search term in the Rare Disease
Database.)

Therapies:  Standard

Primary prevention of SED Congenital is achieved through genetic counseling.
Treatment includes early symptomatic correction of the clubfoot deformity,
closure of the cleft palate, prevention of retinal detachment by regular
ophthalmologic examinations and coagulation of early retinal tears.  Ongoing
orthopedic care is often necessary throughout life.

Therapies:  Investigational

This disease entry is based upon medical information available through
December 1989.  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 Congenital Spoondyloepiphyseal Dysplasia, please
contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     (203) 746-6518

     NIH/National Institute of Child Health and Human Development
     9000 Rockville Pike
     Bethesda, MD  20892
     (301) 496-5133

     The Magic Foundation
     1327 N. Harlem Ave.
     Oak Park, IL  60302
     (708) 383-0808

     Human Growth Foundation (HGF)
     7777 Leesburg Pike
     P.O. Box 3090
     Falls Church, VA  22043
     (703) 883-1773
     (800) 451-6434

     Little People of America
     P.O. Box 633
     San Bruno, CA  94066
     (415) 589-0695

     Short Stature Foundation
     17200 Jamboree Rd., Suite J
     Irvine, CA  92714-5828
     (714) 474-4554
     800-24 DWARF

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

For genetic information and genetic counseling referrals, please contact:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     (914) 428-7100

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     (301) 652-5553

References

BIRTH DEFECTS COMPENDIUM, 2nd ed:  Daniel Bergsma, ed; March of Dimes, 1979.
P. 969.