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$Unique_ID{BRK04336}
$Pretitle{}
$Title{Wolf-Hirschhorn Syndrome}
$Subject{Wolf-Hirschhorn Syndrome WHS Wolf Syndrome Wolf-Hirschhorn Chromosome
Region (WHCR) Four-p (4p) Syndrome Chromosome Number 4 Short Arm Deletion
Syndrome Cri-du-Chat Syndrome Down Syndrome }
$Volume{}
$Log{}
Copyright (C) 1989, 1992 National Organization for Rare Disorders, Inc.
622:
Wolf-Hirschhorn Syndrome
** IMPORTANT **
It is possible that the main title of the article (Wolf-Hirschhorn
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
WHS
Wolf Syndrome
Wolf-Hirschhorn Chromosome Region (WHCR)
Four-p (4p) Syndrome
Chromosome Number 4 Short Arm Deletion Syndrome
Information on the following diseases can be found in the Related
Disorders section of this report:
Cri-du-Chat 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.
Wolf-Hirschhorn Syndrome is a chromosomal disorder caused by a partial
deletion of chromosome 4. Major symptoms may 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.
Symptoms
Wolf-Hirschhorn patients may have the following symptoms: low birth weight,
growth retardation and deficiency, delayed bone age, unusually small head
(microcephaly), and undescended testicles (cryptorchidism). Failure to
thrive, reduced muscle tension (hypotonicity), mental and psychomotor
retardation, seizures, and precocious puberty may also occur.
Children with this syndrome have protruding wide-set eyes and one eye may
be angled either inward or outward (strabismus). Droopy eyelids (ptosis),
eye defects (coloboma), iris deformity, slanted eyelid slits (oblique
palpebral fissures), excess skin over the inner corner of the eyes
(epicanthic folds), and defects of the middle half of the eyebrow may also
occur. There may be an unusual bump on the forehead above the nose
(prominent glabella), and a broad or beaked nose.
Cleft lip, cleft palate, a short groove in the midline above the upper
lip (philtrum), short upper lip, and downturned 'fish-like' mouth may occur.
Small jaws (micrognathia) and low-set ears with a dimple may also be present.
Underdeveloped 'fingerprints' (dermal ridges), a double loop on thumb,
creases across the palms (simian creases), and highly curved upward
(hyperconvex) fingernails may occur. WHS patients may have permanently
flexed soles so that walking is done on the toes. There may be heart
(cardiac) and kidney (renal) defects, and susceptibility to lung (pulmonary)
infections. The urethra (the tube leading from the bladder) may open
underneath the penis (hypospadias) or the urethra may open into the vagina.
The pubic bone (part of the pelvis) may be underdeveloped.
Causes
Wolf-Hirschhorn Syndrome is caused by a partial deletion of the short arm of
chromosome 4. The missing part of this chromosome may be as little as 20
percent. The chromosomes of a parent may show a translocation (an exchange
of parts between chromosomes) that may have precipitated the deletion in
their offspring.
Affected Population
Wolf-Hirschhorn Syndrome is a rare disorder that is present at birth. It
affects males and females in equal numbers.
Related Disorders
Syndromes involving deletions of other chromosomes may be similar to Wolf-
Hirschhorn Syndrome. Comparisons may be useful for a differential diagnosis:
Cri-du-Chat Syndrome is a congenital chromosomal disorder that involves a
partial deletion of chromosome 5. It is similar to the Wolf-Hirschhorn
Syndrome, with additional features such as a high, shrill cry. Patients may
also have defects in the urinary and reproductive organs (urogenital tract),
curvature of the spine (scoliosis), shortened bones in the feet, premature
graying, and severe breathing (respiratory) and feeding problems. (For more
information on this disorder, choose "Cri du Chat" as your search term in the
Rare Disease Database).
Chromosomal disorders that involve extra chromosomes (trisomy) may also
be similar to Wolf-Hirschhorn Syndrome. (For more information on these
disorders, choose "Trisomy," "Trisomy 13," and "Trisomy 18" as your search
terms 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 inner epicanthic folds
around the eyes, iris deformities, small ears with no lobes, and tooth
defects. A small nose, flat face, short neck, small hands and fingers, and
simian creases of the hands 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
Wolf-Hirschhorn patients may benefit from reconstructive surgery for cleft
lip and palate. Special education, physical therapy, and vocational services
may be of benefit for the patient. Genetic counseling may be of benefit for
families of children with Wolf-Hirschhorn Syndrome. Other treatment is
symptomatic and supportive.
Therapies: Investigational
A study is being undertaken to study genes associsted with Wolf-Hirschhorn
Syndrome people. For more information, interested care-givers may wish to
contact:
Gilbert N. Jones, III or Susan A. Guckenberger
Southern Illinois University School of Medicine
Dept. of Pediatrics
Genetics and Metabolism
P.O. Box 19230
Springfield, IL 62794-9230
(217) 782-8460
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 Wolf-Hirschorn Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Parent Support Group for Wolf-Hirschhorn Syndrome
3200 Rivanna Ct.
Woodbridge, VA 22192
(703) 491-0309
Chromosome Deletion Outreach
P.O. Box 164
Holtsville, NY 11742
(516) 736-6754
National Institute of Child Health & Human Development (NICHHD)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
For Genetic Information and genetic counseling referrals:
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
MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins
University Press, 1986. Pp. 770.
SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed.: Kenneth L.
Jones; W.B. Saunders Company, 1988. Pp. 38-39.