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$Unique_ID{BRK03403}
$Pretitle{}
$Title{4q- Syndrome}
$Subject{4q- Syndrome Chromosome 4q- Syndrome Chromosome 4 Long Arm Deletion
Interstitial Deletion of 4q Terminal Deletion of 4q Wolf-Hirschorn Syndrome
4p- Syndrome 11q- Syndrome Greig Cephalopolysyndactyly Syndrome Down Syndrome}
$Volume{}
$Log{}

Copyright (C) 1991 National Organization for Rare Disorders, Inc.

793:
4q- Syndrome

** IMPORTANT **
It is possible that the main title of the article (Chromosome 4-q
Syndrome) is not the name you expected.  Please check the SYNONYM listing to
find the alternate names and disorder subdivisions covered by this article.

Synonyms

     Chromosome 4q- Syndrome
     Chromosome 4 Long Arm Deletion

Disorder Subdivisions:

     Interstitial Deletion of 4q
     Terminal Deletion of 4q

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

     Wolf-Hirschorn Syndrome (4p- Syndrome)
     11q- Syndrome
     Greig Cephalopolysyndactyly Syndrome
     Down 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.

4q- Syndrome is a chromosomal disorder caused by a partial deletion of
the long arm of chromosome 4.  The patient may have an extremely prominent
forehead (frontal bossing), enlargement of the back part of the head, low
placement of ears, short broad hands and feet, unusually small size
associated with slow or delayed growth, congenital heart defects, and
possible mental retardation.

Symptoms

Patients with 4q- Syndrome may have the following symptoms:  abnormal skull
shape, short nose with abnormal bridge, low-set malformed ears, cleft palate,
small jaw, short breastbone, poor or delayed growth, moderate to severe
mental retardation, heart defects, defective urinary and reproductive organs
(genitourinary defects), small size, small hands and feet, unusually wide-set
eyes (hypertelorism), a pointed fifth finger and nail which is very
characteristic of this disorder, and diminished muscle tone (hypotonia).
There may be abnormal brain development (agenesis of corpus callosum).  In
some cases, delayed growth and mental retardation may be present without
obvious physical abnormalities, making it difficult to diagnose this
disorder.

Causes

4q- Syndrome is caused by a partial deletion of the long arm of chromosome 4.
The severity and type of abnormalities depend on the size and location of the
missing chromosomal piece.  Whether it is interstitial (situated between
other parts of the chromosome) or terminal (on the end part of the
chromosome) usually determines the symptoms and severity of the disorder.

Affected Population

4q- Syndrome is a rare disorder that is present at birth.  It affects males
and females in equal numbers.

Related Disorders

Other chromosomal disorders may be similar to 4q- Syndrome.  Comparisons may
be useful for a differential diagnosis:

Wolf-Hirschorn Syndrome (4p- Syndrome) is a chromosomal disorder caused
by a partial deletion of the short arm of chromosome 4.  Major symptoms
include extremely wide-set eyes (ocular hypertelorism) with a broad or beaked
nose, a small head (microcephaly), low-set malformed ears, mental and growth
deficiency, heart (cardiac) defects, and seizures.  (For more information on
this disorder, choose "Wolf-Hirschorn" as your search term in the Rare
Disease Database).

11q- Syndrome is a rare genetic disorder affecting the long arm of
chromosome 11.  Symptoms may include very widely spaced eyes (hypertelorism),
drooping eyelids, abnormally deviated eyes (strabismus), and abnormal
positioning of eyes.  Symptoms may also include a narrow protruding forehead,
broad nasal root, short upturned tip of the nose, a carp-shaped (fish-like)
mouth, receding chin, misshapen ears, unusual creases across the palms
(simian creases), and mental retardation.  (For more information on this
disorder, choose "11q Syndrome" as your search term in the Rare Disease
Database).

Greig Cephalopolysyndactyly Syndrome is a rare genetic disorder
characterized by an enlarged head, unusual facial features, and multiple
physical deformities of the hands and feet.  (For more information on this
disorder, choose "Greig" as your search term in the Rare Disease Database).

Chromosomal disorders that involve extra chromosomes (trisomy) may also
be similar to 4q- Syndrome.  (For more information on these disorders, choose
"Trisomy" as your search term in the Rare Disease Database).

Down Syndrome is a congenital chromosomal disorder involving three copies
of chromosome 21.  Hypotonia, small stature with awkward gait, and mental
deficiency are major symptoms.  There also may be excess skin over the inner
corner of the eyes (epicanthic folds), iris deformities, small ears with no
lobes, and tooth defects.  A small nose, flat face, short neck, small hands
and fingers, and unusual creases across the palms (simian creases) may also
occur.  Heart defects, dry skin, sparse hair, small penis, and infertility
are common symptoms.  Seizures, protruding eyes, low placement of ears, and
undescended testicles are less frequent symptoms.  (For more information on
this disorder, choose "Down" as your search term in the Rare Disease
Database).

Therapies:  Standard

For patients of 4q- Syndrome, special education, physical therapy, and
vocational services may be of benefit.  Genetic counseling may be of benefit
for patients and their families.  Other treatment is symptomatic and
supportive.

Therapies:  Investigational

This disease entry is based upon medical information available through June
1991.  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 4q- Syndrome, please contact:

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

     Retarded Infant Services
     386 Park Avenue South
     New York, NY 10016
     [phone]

     Mental Retardation Assoc. of America
     211 East 300 South, Suite 212
     Salt Lake City, UT 84111
     [phone]

     Association for Retarded Citizens of the U.S.
     P.O. Box 6109
     Arlington, TX 76005
     [phone]
     [phone]

     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

INTERNAL MEDICINE, 2nd Ed.:  Jay H. Stein, ed.-in-chief; Little, Brown and
Co., 1987.  Pp. 1826.

A NEW INTERSTITIAL DELETION OF 4q (q21.1:q22.1).  K. Fagan and A. Gill;
J Med Genet (Oct 1989; issue 26 (10)).  Pp. 644-647.

A PATIENT WITH AN INTERSTITIAL DELETION OF THE PROXIMAL PORTION OF THE
LONG ARM OF CHROMOSOME 4.  M. H. Beall, et al.; Am J Med Genet (Nov 1988;
issue 31 (3)).  Pp. 553-557.

INTERSTITIAL AND TERMINAL DELETIONS OF THE LONG ARM OF CHROMOSOME 4:
FURTHER DELINEATION OF PHENOTYPES.  A. E. Lin, et al.; Am J Med Genet (Nov
1988; issue 31 (3)).  Pp. 533-548.

INTERSTITIAL DELETION, DEL (4)(q33:q35.1), IN A MOTHER AND TWO CHILDREN.
M. A. Curtis, et al.; J Med Genet (Oct 1989; issue 26 (10)).  Pp. 652-654.