$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.