$Unique_ID{BRK03565} $Pretitle{} $Title{Cardio-Facio-Cutaneous Syndrome} $Subject{Cardio-Facio-Cutaneous Syndrome Cardio-Facial Cutaneous Syndrome CFC Syndrome Facio-Cardio-Cutaneous Syndrome Hydrocephalus Ichthyosis} $Volume{} $Log{} Copyright (C) 1992 National Organization for Rare Disorders, Inc. 877: Cardio-Facio-Cutaneous Syndrome ** IMPORTANT ** It is possible that the main title of the article (Cardio-Facio-Cutaneous Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Cardio-Facial Cutaneous Syndrome CFC Syndrome Facio-Cardio-Cutaneous Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Hydrocephalus Ichthyosis 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. Cardio-Facio-Cutaneous Syndrome is a rare disorder in which the patient is born with multiple physical deformities and mental retardation. The major features of this disorder are: abnormal skin conditions; an unusual face; sparse, curly hair; heart defects and mental retardation. Symptoms Patients with Cardio-Facio-Cutaneous Syndrome have a characteristic face in which the opening between the upper and lower eyelids slants downward, the bridge of the nose is flat, the ears are angled back with prominent cartilage on the outer ear, the forehead is unusually high, the ridge above the orbit of the eye is underdeveloped, and the large bones that form the lower part of the head (temporal bones) are constricted. Skin abnormalities vary from patchy formation of skin overgrowth (hyperkeratosis) to a condition in which the skin is very dry and cracked (Ichthyosis). (For more information on these disorders choose "Hyperkeratosis" and/or "Ichthyosis" as your search terms in the Rare Disease Database). The most common heart defects are narrowing of the structure that allows blood to flow through the pulmonary artery and on to the lungs (pulmonary valve), and/or a condition in which the septum separating the two atria is incompletely formed before birth and the opening persists after birth (atrial septal defect). (For more information on this disorder choose "Atrial Septal Defect" as your search term in the Rare Disease Database). Other symptoms found in some patients with CFC Syndrome are: growth failure; mental retardation; sparse, curly hair; an abnormal amount of spinal fluid in the head causing widening of the ventricles (Hydrocephaly) and/or harmless tumors made up of a mass of blood vessels that may be present in several parts of the body (hemangiomatosis). Causes All of the reported cases of Cardio-Facio-Cutaneous Syndrome have been sporadic (no known cause). None of the parents have been affected and there have been no "blood" relationships between parents. However, some scientists suspect that CFC Syndrome may be inherited through an autosomal dominant trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population Cardio-Facio-Cutaneous Syndrome is a very rare disorder that affects males and females in equal numbers. There have been approximately 16 cases of this disorder reported in the medical literature. These cases have been reported in the United States, Australia and Europe. Related Disorders Symptoms of the following disorders can be similar to those of CFC Syndrome, or may occur in conjunction with this disorder: Hydrocephalus is characterized by an unusually large head. It is caused by the abnormal dilation of the ventricles (cerebral spaces) in the brain and the obstruction of the spinal fluid passages (ventricular block) of the central nervous system. This accumulation of fluid in the head puts excessive pressure on the tissues of the brain, and causes an enlargement of the head. Hydrocephalus may be a congenital (inborn) or an acquired disorder, and if not treated promptly it may cause brain damage. (For more information on this disorder choose "Hydrocephalus" as your search term in the Rare Disease Database). Ichthyosis is a general term describing a group of skin disorders that are characterized by an excessive accumulation of large amounts of dead skin cells (squames) in the top layer of the skin. The conversion of an abnormally large number of skin cells into squamous cells is thought to be caused by a defect in the metabolism of the fat-rich matrix around skin cells known as corneocytes. The cells can be thought of as bricks, while the matrix would be the mortar holding these cells together. In general, all forms of Ichthyosis cause dry scaly skin. (For more information on this disorder choose "Ichthyosis" as your search term in the Rare Disease Database). Other disorders with craniofacial abnormalities that may appear to be similar to those of Cardio-Facio-Cutaneous Syndrome may be: Apert Syndrome; Crouzon Disease; Oral-Facial-Digital Syndrome; Nager Acrofacial Dysostosis, AFD, Nager Type; Pyles Disease; and/or Frontometaphyseal Dysplasia. (For more information on these disorders use "craniofacial" as your search term in the Rare Disease Database). Therapies: Standard The dry scaly skin of Ichthyosis is treated by applying skin softening (emollient) ointments, including 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 this disorder. Surgery may be performed to correct the heart defects. Standard treatment for Hydrocephalus is the insertion of a shunt or tube into the head cavity which drains the excess cerebrospinal fluid into a part of the body that can absorb it. In growing children the shunt may have to be lengthened periodically. Complications may arise if the shunt becomes clogged or stops functioning. At times a new shunt may have to be reimplanted. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Drugs derived from Vitamin A (retinoids) such as tretinoin, motretinide, and etretinate are often effective against symptoms of Ichthyosis, but can cause toxic effects on the bones in some cases. A synthetic derivative of Vitamin A, isotretinoin, 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, and should be avoided by women of child bearing age. Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. 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 Cardio-Facio-Cutaneous Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Forward Face 560 First Ave. New York, NY 10016 (212) 263-5205 (800) 422-FACE Cardio-Facio-Cutaneous Syndrome CFC Support Network RD 4, Box 319B McKee City, NJ 08232 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 American Heart Association 7320 Greenville Ave. Dallas, TX 75231 (214) 750-5300 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 2204 (703) 883-1773 (800) 451-6434 NIH/National Institute of Child Health and Human Development (NICHD) 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, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 164. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 282.