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$Unique_ID{BRK03864}
$Pretitle{}
$Title{Ichthyosis, CHILD Syndrome}
$Subject{Ichthyosis, CHILD Syndrome Congenital Hemidysplasia with
Ichthyosiform erythroderma and Limb Defects Disorders of Cornification 16
(Unilateral Hemidysplasia Type) DOC 16 (Unilateral Hemidysplasia Type)
Unilateral Ichthyosiform Erythroderma with Ipsilateral Malformations,
especially Absence Deformity of Limbs Ichthyoses Conradi-Hunermann Syndrome}
$Volume{}
$Log{}
Copyright (C) 1988, 1989, 1992, 1993 National Organization for Rare
Disorders, Inc.
549:
Ichthyosis, CHILD Syndrome
** IMPORTANT **
It is possible the main title of the article (CHILD Syndrome) is not the
name you expected. Please check the SYNONYMS listing on the next page to
find alternate names and disorder subdivisions covered by this article.
Synonyms
Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects
Disorders of Cornification 16 (Unilateral Hemidysplasia Type)
DOC 16 (Unilateral Hemidysplasia Type)
Unilateral Ichthyosiform Erythroderma with Ipsilateral Malformations,
especially Absence Deformity of Limbs
Information on the following disorders can be found in the Related
Disorders section of this report:
Conradi-Hunermann Syndrome
Ichthyoses
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.
CHILD Syndrome (an acronym for Congenital Hemidysplasia with
Ichthyosiform erythroderma and Limb Defects) is an inherited disorder
characterized by skin abnormalities and limb defects on one side of the body.
Abnormalities of other parts of the body may also be present.
Symptoms
CHILD Syndrome (Congenital Hemidysplasia with Ichthyosiform erythroderma and
Limb Defects) is usually present at birth, though it may start during the
first month of life. The skin is usually dry, itchy, red and scaly
(ichthyosiform erythroderma) on one side of the body, although minor skin
involvement in the shape of lines or segments may occur on the opposite side
of the body. Bands of normal skin may be found on the affected side.
Patients with CHILD Syndrome may be bald on one side of the head and have
clawlike nails.
Limb defects usually occur on the same side as the major skin symptoms,
ranging from underdevelopment of fingers and toes to complete absence of the
limb. Underdevelopment of other bones may also occur on the affected side in
some cases. Stippled ends of the long bones (epiphyses) have been noted on
x-ray photos in some newborn babies with CHILD Syndrome.
Abnormalities of the central nervous system, heart, blood vessels,
kidneys, thyroid and adrenal glands, and of the reproductive and urinary
system may also occur. Most of these abnormalities result from
underdevelopment of the affected side of the body.
Causes
CHILD Syndrome is a hereditary disorder transmitted through x-linked dominant
genes. (In X-linked dominant disorders the female with only one X chromosome
affected will develop the disease. However the affected male always has a
more severe condition. Sometimes affected males die before birth so that
only female patients survive.
Affected Population
CHILD Syndrome predominantly affects females, and is usually present at
birth.
Related Disorders
Symptoms of the following disorders may resemble those of CHILD Syndrome.
Comparisons may be useful for a differential diagnosis:
Conradi-Hunermann Syndrome is a form of Chondrodysplasia Punctata. It is
a rare inherited disorder affecting infants and young children. This
disorder is characterized by mild to moderate growth deficiencies including a
shortened neck and slowed growth of arms or legs. Unusual facial
characteristics, large skin pores and sparse hair that tends to be coarse may
also occur. (For more information, choose "Conradi-Hunermann Syndrome" as
your search term in the Rare Disease Database.)
"Ichthyoses" or "Disorders of Cornification" are general terms describing
a group of scaly skin disorders. They are characterized by an abnormal
accumulation of large amounts of dead skin cells (squames) in the top layer
of the skin. The conversion of an abnormally large number of epidermal cells
into squamous cells is thought to be caused by a defect in the metabolism of
skin cells known as "corneocytes" or of the fat-rich matrix around these
cells. The cells can be thought of as bricks, while the matrix would be the
mortar holding these cells together. (See "Ichthyosis" in the Rare Disease
Database.)
Other forms of Ichthyosis include Sjogren-Larsson Syndrome, Netherton
Syndrome, Ichthyosis Hystrix, Lamellar Ichthyosis, Refsum Syndrome, Darier
Disease, Chanarin-Dorfman Syndrome, and Epidermolytic Hyperkeratosis.
(Choose the appropriate name as your search term for more information on that
disorder in the Rare Disease Database.
Therapies: Standard
Skin (dermatologic) symptoms of CHILD Syndrome are treated by applying skin
softening (emollient) ointments, preferably plain petroleum jelly. This can
be especially effective after bathing while the skin is still moist.
Salicylic acid gel is another particularly effective ointment. The skin
should be covered at night with an airtight, waterproof dressing when this
ointment is used. Lactate lotion can also be an effective treatment for the
skin symptoms of this disorder.
Drugs derived from Vitamin A (retinoids) such as tretinoin, motretinide,
and etretinate can be effective against dermatologic symptoms of CHILD
Syndrome, but can cause toxic effects on the bones in some cases. A
synthetic derivative of Vitamin A, isotretinoin (accutane), when taken by
pregnant women, can cause severe birth defects to the fetus. These Vitamin A
compounds have not yet been approved by the Food and Drug Administration
(FDA) for treatment of Ichthyosis.
Other treatment is symptomatic and supportive. Genetic counseling may be
helpful to families of patients with CHILD Syndrome.
Therapies: Investigational
The National Institute of Arthritis, Musculoskeletal and Skin Diseases is
looking for patients with various kinds of Ichthyosis willing to participate
in research aimed at mapping the genes responsible for their disorder.
Interested persons may contact:
Dr. Sherri Bale
National Institute of Arthritis, Musculoskeletal and Skin Diseases
9000 Rockville Pike
Bethesda, MD 20892
(301) 402-2679
The orphan product Monolaurin (Glylorin) is being tested for treatment of
CHILD Syndrome. The product is manufactured by:
Cellegy Pharmaceuticals, Inc.
371 Bel Marin Keys, Suite 210
Novato, CA 94949
This disease entry is based upon medical information available through
May 1993. 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 CHILD Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Foundation for Ichthyosis and Related Skin Types, Inc. (F.I.R.S.T.)
P.O. Box 20921
Raleigh, NC 27619-0921
(919) 782-5728
(800) 545-3286
The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Information Clearinghouse
Box AMS
Bethesda, MD 20892
(301) 495-4484
For information on genetics 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
GENETICALLY TRANSMITTED, GENERALIZED DISORDERS OF CORNIFICATION. THE
ICHTHYOSES: M.L. Williams, et al.; Dermatol Clin (January 1987: issue 5(1)).
Pp. 155-178.
THE CHILD-SYNDROME--CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM
ERYTHRODERMA AND LIMB DEFECTS. A CASE REPORT: J.V. Christiansen, et al.;
Acta Derm Venereol (Stockholm) (1984: issue 64(2)). Pp. 165-168.
THE CHILD SYNDROME. CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM
ERYTHRODERMA AND LIMB DEFECTS: R. Happle, et al.; Eur J Pediatr (June 1980:
issue 134(1)). Pp. 27-33.
MENDELIAN INHERITANCE IN MAN, 7th ed: Victor A. McKusick; Johns Hopkins
University Press, 1986. P. 1400.
THE METABOLIC BASIS OF INHERITED DISEASE, 5th ed.: John B. Stanbury, et
al., eds.; McGraw Hill, 1983. Pp. 1027-1039.