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$Unique_ID{BRK03694} $Pretitle{} $Title{Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate} $Subject{Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome EEC Syndrome Ectodermal Dysplasias Rapp-Hodgkins Syndrome Growth Hormone Deficiency} $Volume{} $Log{} Copyright (C) 1993 National Organization for Rare Disorders, Inc. 935: Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate ** IMPORTANT ** It is possible that the main title of the article (Ectrodactyly- Ectodermal Dysplasia-Cleft Lip/Palate) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome EEC Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Ectodermal Dysplasias Rapp-Hodgkins Syndrome Growth Hormone Deficiency 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. Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate (EEC Syndrome) is a rare form of ectodermal dysplasia inherited as an autosomal dominant genetic trait. It can vary from mild symptoms to severe. The most common symptoms found in patients with EEC Syndrome are: missing or irregular fingers and/or toes (ectrodactyly), abnormalities of the hair and glands, cleft lip and/or palate, or unusual facial features, as well as abnormalities of the eyes and urinary tract. Symptoms The most common symptoms of Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate are: absent or irregular fingers and/or toes (ectrodactyly); and/or abnormalities of the eyes, glands, skin, teeth and urinary tract. Any combination of the following symptoms may be present in affected patients. Missing or irregular fingers and/or toes (ectrodactyly) may be present with abnormalities of the third digit being the most common. This is sometimes referred to as split hand and/or split foot deformity. The affected digits may not be the same on each side. If ectrodactyly is not present, there may be fusion or webbing of the digits (syndactyly). Ectodermal Dysplasias are a group of hereditary, nonprogressive syndromes in which the affected tissue derives primarily from the ectodermal germ layer. The skin, its derivatives, and some other organs are involved. EEC Syndrome patients are typically affected with symptoms of ectodermal dysplasia. The hair may be dry, light colored, fine, and sparse with absent eyebrows and eyelashes. The skin may be dry and teeth may be missing, abnormally small or lacking enamel. (For more information on this disorder choose "Ectodermal Dysplasia" as your search term in the Rare Disease Database). Patients with EEC Syndrome may also have abnormalities of the eyes. The gland of the eye that allows tears to escape (lacrimal gland) may be missing. This gland is needed to moisten the underlining of the eyelids (conjunctiva). The opening of the glands that secrete fluid onto the back of the eyelid (meibomian gland orifice) may also be absent. An abnormally narrow passage of the channel that carries tears from the eye to the nasal cavity (nasolacrimalduct) is another condition found in some patients with EEC Syndrome. These conditions may make the patient susceptible to eye infections as well as scarring of the eye. Vision may also be affected. An opening or fissure on the roof of the mouth or lip (cleft palate and/or cleft lip) may also be present in patients with EEC Syndrome. When cleft palate and/or cleft lip are not present, the patient may have an underdeveloped jaw, a short groove in the center of the upper lip and a broad nasal tip. Widely spaced eyes (hypertelorism) and/or slanted eyes are also sometimes present. (For more information on this disorder choose "Cleft Lip" or "Cleft Palate" as your search term in the Rare disease database). Kidney abnormalities may also be a part of EEC Syndrome in some patients. The tube that carries urine from the kidney into the bladder (ureter) may be obstructed causing the pelvis and kidney duct to become swollen with an accumulation of urine (hydronephrosis). Kidney and pelvis inflammation and infection causing fever, chills, pain, nausea and frequent urination (pyelonephritis) may also occur. An absent kidney as well as duplication of a kidney has been reported in a few cases of EEC Syndrome. Brown pigmented areas on the body (macules), slowed voluntary movement, an abnormally small brain and absent long bones of the arms and legs have been found in association with EEC Syndrome in a few cases. Causes Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate is a rare disorder thought to be inherited as an Autosomal Dominant genetic trait varying in the degree to which the symptoms appear. 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 Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate is a very rare disorder that affects males and females in equal numbers. Well over seventy affected families have been reported in the medical literature. There has been a high number of EEC patients located in the country of Denmark. Related Disorders Symptoms of the following disorders can be similar to those of Ectrodactyly- Ectodermal Dysplasia-Cleft Lip/Palate. Comparisons may be useful for a differential diagnosis: Ectodermal Dysplasias are a group of hereditary, nonprogressive syndromes in which the affected tissue derives primarily from the ectodermal germ layer. The skin, its derivatives, and some other organs are involved. Symptoms may include: eczema, poorly functioning sweat glands, sparse or absent hair follicles, absent or abnormal teeth, disfigured nails, and difficulties with the nasal passages and ears. (For more information on this disorder, choose " Ectodermal Dysplasia" as your search term in the Rare Disease Database). Rapp-Hodgkins Syndrome is a rare form of ectodermal dysplasia inherited as an autosomal dominant genetic trait. Major symptoms of this disorder include inability to sweat in combination with cleft lip and palate, dental abnormalities and lack of hair. (For more information on this disorder, choose "Rapp Hodgkins Syndrome" as your search term in the Rare Disease Database). The following disorders may be associated with Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate as secondary characteristics. They are not necessary for a differential diagnosis: Growth Hormone Deficiency has been reported in a few cases of EEC Syndrome. Growth Hormone is manufactured in the pituitary gland. If it is missing or reduced in quantity during infancy or childhood, it results in growth retardation, short stature and other maturation delays. (For more information on this disorder choose "Growth Hormone Deficiency" as your search term in the Rare Disease Database). Therapies: Standard When hydronephrosis is present, temporary drainage of the urine may be necessary. Surgery may be indicated when pain, infection and/or kidney function is compromised. Surgery may be performed on fingers and/or toes to correct webbing and malformations in some cases. Special skin care techniques may be warranted under the direction of a dermatologist, and dental treatment may be required. 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. Cleft palate may be repaired by surgery or covered by an artificial device (prosthesis) that closes or blocks the opening. Surgical repair can be carried out in stages or in a single operation, according to the nature and severity of the defect. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Orphan Products: 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 affects have been observed. Children as young as eight years old have been treated with this procedure. For further information on this procedure contact: William N. Williams, D.D.S. University of Florida College of Dentistry Box J-424 Gainesville, FL 32610 (904) 392-4370 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 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 Ectrodactyly-Ectodermal Dysplasia-Clefting 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 219 E. Main Street Mascoutah, IL 62258 (618) 566-2020 NIH/National Arthritis and Musculoskeletal and Skin Disease Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 496-4484 American Cleft Palate Cranial Facial Association 1218 Granview Ave. Pittsburgh, PA 15211 (412) 681-1376 (800) 24CLEFT 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, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 335. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W.B. Saunders Co., 1988. P .252. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 607-8. NELSON TEXTBOOK OF PEDIATRICS, 14th. Ed.; Richard E. Behrman, M.D., Editor: W.B. Saunders Company, 1992. Pp. 1629. GROWTH HORMONE DEFICIENCY ASSOCIATED WITH THE ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING SYNDROME: J. Knudtzon, et al.; Pediatrics (March, 1987, issue 79(3)). Pp. 410-2. EEC SYNDROME: REPORT ON 20 NEW PATIENTS, CLINICAL AND GENETIC CONSIDERATIONS: E.S. Rodini, et al.; Am J Genet (September, 1990, issue 37(1)). Pp. 42-53. GENITOURINARY ANOMALIES ARE A COMPONENT MANIFESTATION IN THE ECTODERMAL DYSPLASIA, ECTRODACTYLY, CLEFT LIP/PALATE (EEC) SYNDROME: B.R. Rollnick, et al.; Am J Med Genet (January, 1988, issue 29(1)). Pp. 131-6.