$Unique_ID{BRK04102} $Pretitle{} $Title{Pfeiffer syndrome} $Subject{Pfeiffer syndrome Acrocephalosyndactyly V ACS V Noack Syndrome Acrocephalosyndactyly Apert Syndrome Crouzon Disease (Apert-Crouzon Disease) Saethre-Chotzen Syndrome Goodman Syndrome Otopalatodigital Syndrome} $Volume{} $Log{} Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 502: Pfeiffer syndrome ** IMPORTANT ** It is possible the main title of the article (Pfeiffer 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 Acrocephalosyndactyly V ACS V Noack Syndrome Information on the following diseases may be found in the Related Disorders section of this report: Acrocephalosyndactyly Apert Syndrome Crouzon Disease (Apert-Crouzon Disease) Saethre-Chotzen Syndrome Goodman Syndrome Otopalatodigital 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. Pfeiffer Syndrome is a very rare genetic disorder primarily affecting the bones. It is characterized by a short, pointed or conical head (acro- brachycephaly) and abnormalities of the face, jaws and teeth. Webbed fingers or toes (syndactyly) and other abnormalities of the thumbs and big toes may also occur. Symptoms can vary, ranging from mild to severe. Symptoms Pfeiffer Syndrome is characterized by bone abnormalities of the face and head (craniofacial dysostosis), including a pointed or conical head, wide-set eyes (hypertelorism), and slightly slanted eyelid folds. Pressure on the brain inside the skull may be elevated. An underdeveloped upper jaw bone, high arched palate, and prominent lower jaw may also be apparent. The teeth may erupt in the wrong places (maleruption) causing improper alignment (malocclusion) when the jaws close. The toes and fingers are partially webbed, sometimes with broad, short thumbs and big toes. One of the small bones (phalanges) in the thumb may be either triangular or trapezoid shaped and occasionally fused with the other small bone, so that the thumb points away from the other fingers. The big toe may also point excessively to the midline of the body (varus deformity). A mild hearing loss due to a defect in the middle ear may occur. Intelligence is usually normal. The opening from the stomach to the duodenum may be narrowed at birth (congenital pyloric stenosis). Spontaneous abortion of a fetus with Pfeiffer Syndrome may occur in rare cases. Causes Pfeiffer Syndrome is a genetic disorder inherited through an autosomal dominant mechanism, possibly through the action of a specific mutant gene which produces many different features (pleiotropic). (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, 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 normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Pfeiffer Syndrome is a very rare disorder that affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Pfeiffer Syndrome. Comparisons may be useful for a differential diagnosis: Acrocephalosyndactyly is the name of a group of disorders including Apert Syndrome (Type I); Crouzon Disease (Type II); Saethre-Chotzen Syndrome (Type III); Goodman Syndrome (Type IV); and, Pfeiffer Syndrome (Type V). All are characterized by a pointed head (acrocephaly) and webbing of fingers and/or toes (syndactyly). Apert Syndrome (Acrocephalosyndactyly Type I; Syndactylic Oxycephaly) is an autosomal dominant inherited disorder. It is characterized, in addition to acrocephalosyndactyly, by other skeletal and facial abnormalities, and mental retardation. (For more information on this disorder, choose "Apert" as your search term in the Rare Disease Database.) Crouzon Disease (Apert-Crouzon Disease; Acrocephalosyndactyly Type II) is a genetic disorder characterized, in addition to acrocephalosyndactyly, by brain abnormalities caused by premature joining of various bones of the skull. Vision disturbances and deafness can develop in some cases. With treatment, pressure inside the skull may be relieved and major symptoms may improve. (For more information on this disorder, choose "Crouzon" as your search term in the Rare Disease Database.) Saethre-Chotzen Syndrome (Acrocephalosyndactyly Type III) is a hereditary disorder characterized, in addition to acrocephalosyndactyly, by abnormalities of the skin on the toes and fingers. Short stature and, in some cases, mild to moderate mental retardation may also occur. (For more information on this disorder, choose "Saethre-Chotzen" as your search term in the Rare Disease Database.) Goodman Syndrome (Acrocephalosyndactyly Type IV) is a hereditary disorder characterized, in addition to acrocephalosyndactyly, by permanent lateral deviation or deflection of one or more fingers (clinodactyly), permanent flexion of one or more fingers (camptodactyly), and deviation of one of the forearm bones (ulna). Otopalatodigital Syndrome (OPD Syndrome) is a very rare sex-linked genetic disorder characterized by hearing loss due to a defect of the middle ear (conduction deafness), cleft palate, a characteristic face, and generalized abnormality of bone development (dysplasia). A broad based nose gives the patient the appearance of a boxer. Wide spacing of the toes, abnormalities of the fingers, such as a permanent deviation or deflection (clinodactyly) of the fifth finger, may also occur. Dislocation of the head of one of the forearm bones (radius), and a caved-in breast (pectus excavatum) are other features which sometimes occur. Therapies: Standard Treatment of patients with Pfeiffer Syndrome is symptomatic and supportive. Surgery to relieve pressure in the skull may be performed during childhood. The so-called "LeFort III advancement surgery" may be performed during early childhood to prevent progressive malformation of the upper jaw. Therapies: Investigational When hearing loss is caused by fixation of the small bones in the middle ear, surgical correction may be indicated. Genetic counseling is recommended for families of children with Pfeiffer Syndrome. This disease entry is based upon medical information available through December 1988. 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 Pfeiffer Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 Forward Face 560 First Ave. New York, NY 10016 (212) 263-5205 (800) 422-FACE FACES National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 National Craniofacial Foundation 3100 Carlisle Street, Suite 215 Dallas, TX 75204 1-800-535-3643 Society for the Rehabilitation of the Facially Disfigured, Inc. 550 First Avenue New York, NY 10016 (212) 340-5400 About Face 99 Crowns Lane Toronto, Ontario M5R 3PA Canada (416) 944-3223 Let's Face It Box 711 Concord, MA 01742 (508) 371-3186 For genetic information and genetic counseling referrals, please contact: Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 References This report is based on outlines by medical and dental students (1984-1986) at the Medical College of Virginia for their course in human genetics. MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 13. VARIABLE EXPRESSION IN PFEIFFER SYNDROME: H.M. Sanchez, et al.; Journal Med Genet (February 1981: issue 18(1)). Pp. 73-75. MAXILLARY GROWTH FOLLOWING LeFort III ADVANCEMENT SURGERY IN CROUZON, APERT, AND PFEIFFER SYNDROMES: D.I. Bachmayer, et al.; American Journal Orthod Dentofacial Orthop (November 1986: issue 90(5)). Pp. 420-430. HEARING LOSS IN PFEIFFER'S SYNDROME: C.W. Cremers; International Journal Pediatr Otorhinolaryngol (December 1981: issue 3(4)). Pp. 343-353.