$Unique_ID{BRK04211} $Pretitle{} $Title{Seckel Syndrome} $Subject{Seckel Syndrome Bird-Headed Dwarf of Seckel Bird-Headed Dwarfism Seckel's Dwarfism Nanocephaly Nanocephalic Dwarfism Microcephalic Primordial Dwarfism I Hallermann-Streiff-Francois Syndrome Fanconi's Anemia} $Volume{} $Log{} Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 491: Seckel Syndrome ** IMPORTANT ** It is possible the main title of the article (Seckel's Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Bird-Headed Dwarf of Seckel Bird-Headed Dwarfism Seckel's Dwarfism Nanocephaly Nanocephalic Dwarfism Microcephalic Primordial Dwarfism I Information on the following diseases can be found in the Related Disorders section of this report: Hallermann-Streiff-Francois Syndrome Fanconi's Anemia 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. Seckel Syndrome is a genetic form of dwarfism characterized by low birth weight, a small head, large eyes, beak-like protrusion of the nose, narrow face, and receding lower jaw. Also known as "Bird-Headed Dwarfism", this disorder is often marked by abnormalities in skin pigmentation. Various congenital malformations can be accompanied by dental abnormalities and mental retardation. Symptoms Seckel Syndrome, also known as "Bird-Headed Dwarfism", is characterized by low birth weight, dwarfism, and congenital malformations such as dislocation of the hips, clubfoot, abnormally small kidneys, and deformity of the liver. Mental retardation and an abnormally small head with a receding forehead, narrow face, large eyes, beak-like protrusion of the nose, and receding lower jaw are sometimes accompanied by dental alterations. Hypoplastic (underdeveloped) tooth enamel, a high arched roof of the mouth (palate), and missing or atrophic teeth tend to occur in approximately sixty percent of cases. Causes Seckel Syndrome ("Bird-Headed Dwarfism") is inherited as an autosomal recessive trait. (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 recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Seckel Syndrome ("Bird-Headed Dwarfism") occurs at a rate of approximately one in 10,000 live births. According to one medical study, approximately sixty cases had been identified between 1960 (when this disorder was first identified) and 1982. Seckel Syndrome affects males and females in equal numbers, and tends to affect more than one person in a family. Related Disorders Symptoms of the following disorders can be similar to those of Seckel Syndrome (Bird-Headed Dwarfism). Comparisons may be useful for a differential diagnosis: Hallermann-Streiff-Francois Syndrome, also known as mandibulo-oculofacial dyscephaly, is a syndrome of bony abnormalities of the roof of the skull (calvaria), face and jaw. Additionally, patients have a bird-like face with a narrow curved nose, and multiple eye defects including abnormally small eyeballs and corneas, and cataracts. Hair can be thinned or absent, and eyebrows may be absent or underdeveloped. Premature aging (progeria) and atrophy of the skin, particularly the elastic tissue, may also be present. (For more information on this disorder, choose "Hallermann" as your search term in the Rare Disease Database.) Fanconi's Anemia is a rare form of familial aplastic anemia found chiefly in children of Mediterranean ancestry. It is characterized by bone abnormalities, an abnormally small head (microcephaly), underdeveloped genitalia, and brown pigmentation of the skin. Complications can include infections such as pneumonia and meningitis, excessive bleeding (hemorrhage), and leukemia. Although other symptoms are similar to those of Fanconi's Anemia, patients with Seckel Syndrome can be distinguished by the presence of a receding forehead and chin, large eyes, and a large beaked nose. (For more information on this disorder, choose "Fanconi" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Seckel Syndrome ("Bird-Headed Dwarfism") is symptomatic and supportive. Genetic counseling and service agencies which benefit physically disabled and/or mentally retarded individuals and their families can be helpful. Therapies: Investigational This disease entry is based upon medical information available through June 1989. 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 this Seckel Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 International Center for Skeletal Dysplasia St. Joseph Hospital 7620 York Road Towson, MD 21204 (301) 337-1250 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 22043 (703) 883-1773 (800) 451-6434 Little People of America P.O. Box 633 San Bruno, CA 94066 (415) 589-0695 Parents of Dwarfed Children 11524 Colt Terrace Silver Spring, MD 20902 Association for Research into Restricted Growth 2 Mount Court 81 Central Hill London SE 19 1 BS England 01-678-2984 NIH/National Child Health & Human Development (NICHHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For genetic information 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 This Rare Disease Database entry is based upon outlines prepared by medical and dental students (1984-1986) at the Medical College of Virginia for their course in human genetics, and the following articles: MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 859. PIGMENTARY CHANGES IN SECKEL'S SYNDROME: A. Fathizadeh, et al.; J Am Acad Dermatol (July 1979, issue 1(1)). Pp. 52-54. SECKEL SYNDROME: AN OVERDIAGNOSED SYNDROME: E. Thompson, et al.; J Med Genet (June 1985, issue 22(3)). Pp. 192-201. MICROCEPHALY, MICROGNATHIA, AND BIRD-HEADED DWARFISM: PRENATAL DIAGNOSIS OF A SECKEL-LIKE SYNDROME: D.F. Majoor-Krakauer, et al.; Am J Med Genet (May 1987, issue 27(1)). Pp. 183-188.