$Unique_ID{BRK03796} $Pretitle{} $Title{Hallermann-Streiff Syndrome} $Subject{Hallermann-Streiff Syndrome Hallermann-Streiff-Francois Syndrome Francois Dycephalic Syndrome Dycephalic Syndrome of Francois Oculomandibulodyscephaly Mandibulo-Oculo-Facial Dyscephaly Oculomandibulofacial Syndrome Treacher Collins Syndrome Seckel Syndrome} $Volume{} $Log{} Copyright (C) 1988, 1990 National Organization for Rare Disorders, Inc. 498: Hallermann-Streiff Syndrome ** IMPORTANT ** It is possible the main title of the article (Hallermann-Streiff 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 Hallermann-Streiff-Francois Syndrome Francois Dycephalic Syndrome Dycephalic Syndrome of Francois Oculomandibulodyscephaly Mandibulo-Oculo-Facial Dyscephaly Oculomandibulofacial Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Treacher Collins Syndrome Seckel Syndrome General Discussion ** IMPORTANT ** 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. Hallermann-Streiff syndrome, also known as oculomandibulodyscephaly, is a syndrome of bony abnormalities of the roof of the skull (calvaria), face and jaw. Affected persons have a bird-like face with a narrow curved nose, and multiple eye defects including cataracts. Also, the corneas of the eyes and the eyeballs themselves are smaller than normal. Hair can be thinned or absent overlying the lines where the plates of the skull meet, and eyebrows may be absent or underdeveloped. Premature aging (progeria) and atrophy of the elastic tissue of the skin may also occur. Symptoms Hallermann-Streiff Syndrome is characterized by dwarfism and malformation of the head and face (dyscephaly). The children are born with a bird-like face having a receding jaw, a beaked nose, and thinned or absent hair overlying the lines where the plates of the skull meet. Additionally, eyebrows may be absent or underdeveloped. The eyeballs and corneas of the eyes are abnormally small with clouding of the clear lens of the eye (cataract), and/or glaucoma. Abnormalities of the teeth include the presence of teeth at birth, or the eruption of teeth at a few weeks of age which are not well anchored in the jaw. These premature teeth often fall out. Permanent teeth, which normally erupt during childhood, are usually absent except for the first permanent molars. Abnormalities of the skull and face may predispose some patients to respiratory disorders. Additionally, motor and/or mental retardation, premature aging (progeria) and wasting (atrophy) of the elastic tissue of the skin may occur. Causes Hallermann-Streiff Syndrome is thought to result from sporadic chromosomal mutations. Many of the identified cases occur in marriages of closely related persons (consanguinity). Some scientists believe Hallermann-Streiff Syndrome may be inherited as an autosomal recessive trait. Symptoms are thought to result from a developmental defect in the first or second of six branchial arches in the head and neck region of the fetus. 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 Hallermann-Streiff Syndrome affects males and females in equal numbers. Since this disorder was first identified by Dr. Hallermann in 1948 and Dr. Streiff in 1950, approximately fifty cases have been reported in the United States medical literature. Related Disorders Symptoms of the following disorders can be similar to those of Hallermann- Streiff Syndrome. Comparisons may be useful for a differential diagnosis: Treacher Collins Syndrome, also known as mandibulofacial dysostosis, is characterized by variable malformations related to the first branchial arch during early development of the fetus. The opening between the upper and lower eyelids (palpebral fissures) slopes outward and downward with notches or absence of some eye tissue (coloboma) in the outer third of the lower eyelids. There are bony defects or underdevelopment of the cheek (malar) bones and the arch (zygoma) formed by the cheek bones, underdevelopment of the jaw, and an abnormally large mouth (macrostomia) with a high or cleft palate. Abnormal positioning (malocclusion or malposition) of teeth, low-set malformed external ears, atypical hair growth, and occasional clefts or pits between the mouth and ear can occur. This disorder is known as "Treacher Collins-Franceschetti's Syndrome" if most symptoms are present, and is known as "Treacher Collins Syndrome" if symptoms are limited to the eye socket (orbit) and cheek bone (malar) region. Seckel Syndrome (Bird-Headed Dwarfism) is a genetic form of dwarfism characterized by low birth weight, a small head, large eyes, beaklike protrusion of the nose, narrow face, and receding lower jaw. This disorder is often marked by abnormalities in skin pigmentation. Various congenital malformations can be accompanied by dental abnormalities and mental retardation. (For more information on this disorder, choose "Seckel" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Hallermann-Streiff Syndrome is symptomatic and supportive. Vision problems can be successfully treated by an eye specialist. Infections should be carefully guarded against. In case of severe respiratory distress, an otolaryngologist may recommend a surgical opening from the neck to the windpipe (tracheostomy). Services which assist physically and mentally retarded individuals are helpful. Genetic counseling will be of benefit for patients and their families. Therapies: Investigational This disease entry is based upon medical information available through April 1990. 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 National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Hallermann-Streiff Parent Association 1367 Beulah Park Lexington, KY 40597 (606) 273-6928 Forward Face 560 First Ave. New York, NY 10016 (212) 263-5205 (800) 422-FACE International Center for Skeletal Dysplasia St. Joseph Hospital 7620 York Road Towson, MD 21204 (301) 337-1250 FACES National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 Society for the Rehabilitation of the Facially Disfigured 550 First Ave. New York, NY 10016 (212) 340-5400 National Craniofacial Foundation 3100 Carlisle Street, Suite 215 Dallas, TX 75204 (800) 535-3643 About Face 99 Crowns Lane Toronto, Ontario M6R 3PA Canada (416) 944-3223 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 MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1017. 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. AIRWAY MANAGEMENT IN HALLERMANN-STREIFF SYNDROME: R.T. Sataloff, et al.; Am J Otolaryngol (January-February 1984, issue 5(1)). Pp. 64-67. HALLERMANN-STREIFF SYNDROME: REPORT OF A CASE: A.J. Malerman, et al.; ASDC J Dent Child (July-August 1986, issue 53(4)). Pp. 287-292. DENTO-ALVEOLAR ABNORMALITIES IN OCULOMANDIBULODYSCEPHALY (HALLERMANN- STREIFF SYNDROME): P.J. Slootweg, et al.; J Oral Pathol (April 984, issue 13(2)). Pp. 147-154.