$Unique_ID{BRK03801} $Pretitle{} $Title{Hay-Well's Syndrome} $Subject{Hay-Well's Syndrome AEC Syndrome Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Hay-Wells Syndrome of Ectodermal Dysplasia Christ-Siemens-Touraine Syndrome Hallermann-Streiff Syndrome Johanson-Blizzard Syndrome Jorgenson's Syndrome Rapp-Hodgkins Syndrome Zanier-Roubicek Syndrome} $Volume{} $Log{} Copyright (C) 1992 National Organization for Rare Disorders, Inc. 880: Hay-Well's Syndrome ** IMPORTANT ** It is possible that the main title of the article (Hay-Well's 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 AEC Syndrome Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Hay-Wells Syndrome of Ectodermal Dysplasia Information on the following diseases can be found in the Related Disorders section of this report: Christ-Siemens-Touraine Syndrome Hallermann-Streiff Syndrome Johanson-Blizzard Syndrome Jorgenson's Syndrome Rapp-Hodgkins Syndrome Zanier-Roubicek 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. Hay-Well's Syndrome is one of a group of rare genetic skin disorders known as the Ectodermal Dysplasias. Major characteristics of this disorder include cleft lip and/or palate, fusion of one or both eyelids together, absent or defective nails, coarse, sparse or wiry hair, diminished ability to sweat, and missing, widely spaced, or cone-shaped teeth. Hay-Well's Syndrome is inherited as a autosomal dominant trait. Symptoms The main features of Hay-Well's Syndrome are: 1. Congenital Ectodermal Dysplasia - a group of skin conditions in which the patient is born with abnormal growth or development of the skin, it's derivatives and some organs. The affected tissue derives primarily from the ectodermal germ layer. Hair and teeth are also abnormal in the ectodermal dysplasias. 2. Cleft lip and/or palate - a condition that occurs when the roof of the mouth has not completely closed at birth. This opening or fissure is due to a failure of the upper jaw bones (maxillae) to properly fuse together during development of the embryo. This deformity may affect the entire roof of the mouth (palate), or only the lip or both. The severity of the cleft may range from a barely visible notch to complete non-closure and deformity of the lip and palate. 3. Ankyloblepharon filiforme adnatum - bands of tissue causing the eyelids to adhere or fuse together. This may occur in one or both eyes. 4. Mild Hypohidrosis - a condition in which the patient has a diminished capacity to sweat due to abnormal or partial sweat glands. 5. Dystrophic nails - a condition in which the finger and/or toe nails do not develop normally. 6. Abnormal hair - patients with Hay-Well's Syndrome have coarse, sparse, wiry hair and may experience partial or total hair loss (alopecia). 7. Hypodontia - a condition in which the patient is born with less that the normal number of teeth. Patients with Hay-Well's Syndrome may also have widely spaced, cone shaped teeth with insufficient enamel. 8. Velopharyngeal incompetence - a birth defect in the opening structure of the throat. The part of the mouth under the nasal passages is not completely closed. This condition may cause food to spit up through the nose and a speech impairment. In some cases velopharyngeal incompetence may occur instead of cleft lip and/or palate. Some (but not all) of the following additional symptoms may be present in patients with Hay-Well's Syndrome: 9. Maxillary hypoplasia - a condition in which the upper jaw is smaller than normal. 10. Infections or erosions of the scalp. 11. Oval shaped face and broad nasal bridge. 12. Palmoplantar keratoderma - a horny skin condition appearing on the palms of the hands and soles of the feet. This condition often occurs during adulthood. 13. Hyperpigmentation - unusual darkening of the skin due to excess pigmentation. 14. Dry skin. 15. Photophobia - abnormal sensitivity of the eyes to light. 16. Blepharitis - inflammation of the eyelids. 17. Lacrimal Puncta - one or more of the upper or lower duct openings of the eye are absent or underdeveloped. 18. Cupped Ears. 19. Stenosis of the ear canal - an abnormally narrow ear canal. 20. Hearing loss Causes Hay-Well's Syndrome may occur for no apparent reason or it may be inherited as 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 Hay-Well's Syndrome is a very rare disorder that affects males and females in equal numbers. There have been approximately 12 reported cases of this syndrome in medical literature. The 12 reported cases were from the United States, Canada and Great Britain. Related Disorders Symptoms of the following disorders can be similar to those of Hay-Well's Syndrome. Comparisons may be useful for a differential diagnosis: Christ-Siemens-Touraine Syndrome is a form of ectodermal dysplasia that is characterized by lack of development of teeth, reduced ability to sweat resulting in heat intolerance, and loss of hair. The face may have a bulging forehead and chin, sunken cheeks, broad flat nose, thick lips and fine, wrinkled skin around the eyes. (For more information on this disorder, choose "Ectodermal Dysplasias" as your search term in the Rare Disease Database). Hallermann-Streiff Syndrome is a autosomal recessive form of ectodermal dysplasia. It is characterized by a lack of hair on the head and abnormalities of the teeth. There may also be too many teeth, failure of baby teeth to fall out, and a lack of tooth enamel. Patients have similar faces with narrow, small, pointed noses, small jaws, small mouth with thin lips, a short head and bulging of the forehead. Eye problems may include cataracts, crossed eyes, and blue coloring in the whites of the eyes. There may also be a narrow high-arched palate and a delay in the growth of the bones. (For more information on this disorder choose "Hallermann-Streiff" as your search term in the Rare Disease Database). Johanson-Blizzard Syndrome is a form of ectodermal dysplasia that is characterized by nose, scalp and hair defects, as well as a lack of teeth, deafness, short stature, lack of motor development and malabsorption problems. The most striking feature of this syndrome is the beaklike appearance of the nose. Three-fourths of the patients have a protrusion over the rear fontanelle of the skull at birth which gets thick and hard as the child grows. Their teeth are peg-shaped and they have thin hair which sweeps up from the forehead. Patients with Johanson-Blizzard Syndrome show marked hearing loss from birth as well as motor and mental retardation. Bone growth is delayed and there may be associated intestinal, absorption and genital defects. Jorgenson's Syndrome is another form of ectodermal dysplasia characterized by the inability to sweat properly, a lack of hair and tooth growth, and unusual skin problems. These patients do sweat but the amount is very slight. There is a lack of growth of eyebrows and eyelashes, and the patient is usually bald by the teen years. The skin is dry with fine fingerprints (dermal ridges) on the hands and feet. There are abnormal amounts of cavities in the baby teeth and a lack of development of some of the permanent teeth. The patient usually has a long, thin nose, thin upper lip and a long space between the nose and mouth. Rapp-Hodgkins Syndrome is another form of ectodermal dysplasia. The main characteristics of this disorder are absence of the ability to sweat in combination with cleft lip and palate, dental abnormalities and lack of hair. Corneal opacities and other eye defects with a tendency to develop eye infections are often present. The ears may be large and malformed, and also prone to infections. Hearing and speech problems may also be associated with this disorder. Zanier-Roubicek Syndrome is a form of ectodermal dysplasia which is often associated with severe overheating due to the inability to sweat. There is usually normal sweating, however, on the palms of the hands and soles of the feet. The patient usually shows a lack of hair on the head but normal eyebrows and eyelashes. Patients have fewer than the normal number of teeth with yellow discoloration of the ones that are present. The finger and toe nails are brittle. A lack of tearing of the eyes may also occur, as well as underdevelopment of the breasts. This syndrome is transmitted as an autosomal recessive trait. Therapies: Standard There is no known cure for any of the Ectodermal Dysplasias. Treatment is directed at the symptoms. Certain skin creams may relieve skin discomfort. Dentures, hearing aids, etc. may be required. Heat and overexercise are avoided. Vaccines and anti-infectious agents are used to reduce infections of the skin and respiratory tract. Treatment of a person with cleft lip and/or palate requires the coordination efforts of a team of specialists. Pediatricians, dental specialists, surgeons, speech pathologists, and psychologists must work together in planning the child's treatment and rehabilitation. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational The palate of cleft palate patients is closed during early childhood but difficulties may persist if the palate is excessively short in relation to the pharynx. Researchers are studying a teflon-glycerine paste that is applied to the rear of the pharynx in a minor surgical procedure. A rounder bump or ledge is formed, bringing the pharynx and palate into the proper relationship with each other. The hardened paste remains in place indefinitely; no side effects have been observed. Children as young as eight years old have been treated with this procedure. For further information on this procedure for cleft palate contact: William N. Williams, D.D.S. University of Florida College of Dentistry Box J-424 Gainsville, FL 32610 (904) 392-4370 The National Institute of Dental Research in Bethesda, MD, is conducting a research project to evaluate dental treatment of individuals who have Ectodermal Dysplasias. Treatment will consist of either conventional removable dentures or fixed dentures supported by dental implants. The project is designed to evaluate the effect of dental implants on such things as satisfaction with treatment, the ability to chew foods, and maintenance of the bone that supports the dentures. To be eligible to participate in this study, individuals must have one of the ectodermal dysplasias, be missing several teeth, and be between the ages of twelve and seventy years. A complete oral and dental examination will be provided to determine if an individual qualifies for the five year study. Financial aid is expected to be available to help defray travel and lodging expenses for trips to Bethesda, MD. For additional information, physicians can contact: Albert D. Guckes, M.D. Dental Clinic, NIDR Bldg. 10, Rm. 6S-255 National Institutes of Health Bethesda, MD 20892 (301) 496-4371 or 2944 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 Hay-Well's Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Foundation for Ectodermal Dysplasias 108 North First, Suite 311 Mascoutah, IL 62258 (618) 566-2020 NIH/National Arthritis and Musculoskeletal and Skin Disease Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 American Cleft Palate Cranial Facial Association 1218 Granview Ave. Pittsburgh, PA 15211 (412) 681-1376 (800) 24CLEFT Forward Face 560 First Ave. New York, NY 10016 (212) 263-5205 (800) 422-FACE National Cleft Palate Association 2950 Hearne Ave Shreveport, LA 71103 (318) 635-8191 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. 71. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W.B. Saunders Co., 1988. Pp. 254. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 599-96. VARIABLE EXPRESSION IN ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP AND PALATE SYNDROME: S.L. Green, et al.; Am J Med (May, 1987, issue 27(1)). Pp. 207-12. AEC SYNDROME: ANKYLOBLEPHARON, ECTODERMAL DEFECTS, AND CLEFT LIP AND PALATE. REPORT OF TWO CASES: J. Spiegel, et al.; J Am Acad Dermatol (May, 1985, issue 12(5 PT 1)). Pp. 810-15.