$Unique_ID{BRK04336} $Pretitle{} $Title{Wolf-Hirschhorn Syndrome} $Subject{Wolf-Hirschhorn Syndrome WHS Wolf Syndrome Wolf-Hirschhorn Chromosome Region (WHCR) Four-p (4p) Syndrome Chromosome Number 4 Short Arm Deletion Syndrome Cri-du-Chat Syndrome Down Syndrome } $Volume{} $Log{} Copyright (C) 1989, 1992 National Organization for Rare Disorders, Inc. 622: Wolf-Hirschhorn Syndrome ** IMPORTANT ** It is possible that the main title of the article (Wolf-Hirschhorn Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms WHS Wolf Syndrome Wolf-Hirschhorn Chromosome Region (WHCR) Four-p (4p) Syndrome Chromosome Number 4 Short Arm Deletion Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Cri-du-Chat Syndrome Down 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. Wolf-Hirschhorn Syndrome is a chromosomal disorder caused by a partial deletion of chromosome 4. Major symptoms may include extremely wide-set eyes (ocular hypertelorism) with a broad or beaked nose, a small head (microcephaly), low-set malformed ears, mental and growth deficiency, heart (cardiac) defects, and seizures. Symptoms Wolf-Hirschhorn patients may have the following symptoms: low birth weight, growth retardation and deficiency, delayed bone age, unusually small head (microcephaly), and undescended testicles (cryptorchidism). Failure to thrive, reduced muscle tension (hypotonicity), mental and psychomotor retardation, seizures, and precocious puberty may also occur. Children with this syndrome have protruding wide-set eyes and one eye may be angled either inward or outward (strabismus). Droopy eyelids (ptosis), eye defects (coloboma), iris deformity, slanted eyelid slits (oblique palpebral fissures), excess skin over the inner corner of the eyes (epicanthic folds), and defects of the middle half of the eyebrow may also occur. There may be an unusual bump on the forehead above the nose (prominent glabella), and a broad or beaked nose. Cleft lip, cleft palate, a short groove in the midline above the upper lip (philtrum), short upper lip, and downturned 'fish-like' mouth may occur. Small jaws (micrognathia) and low-set ears with a dimple may also be present. Underdeveloped 'fingerprints' (dermal ridges), a double loop on thumb, creases across the palms (simian creases), and highly curved upward (hyperconvex) fingernails may occur. WHS patients may have permanently flexed soles so that walking is done on the toes. There may be heart (cardiac) and kidney (renal) defects, and susceptibility to lung (pulmonary) infections. The urethra (the tube leading from the bladder) may open underneath the penis (hypospadias) or the urethra may open into the vagina. The pubic bone (part of the pelvis) may be underdeveloped. Causes Wolf-Hirschhorn Syndrome is caused by a partial deletion of the short arm of chromosome 4. The missing part of this chromosome may be as little as 20 percent. The chromosomes of a parent may show a translocation (an exchange of parts between chromosomes) that may have precipitated the deletion in their offspring. Affected Population Wolf-Hirschhorn Syndrome is a rare disorder that is present at birth. It affects males and females in equal numbers. Related Disorders Syndromes involving deletions of other chromosomes may be similar to Wolf- Hirschhorn Syndrome. Comparisons may be useful for a differential diagnosis: Cri-du-Chat Syndrome is a congenital chromosomal disorder that involves a partial deletion of chromosome 5. It is similar to the Wolf-Hirschhorn Syndrome, with additional features such as a high, shrill cry. Patients may also have defects in the urinary and reproductive organs (urogenital tract), curvature of the spine (scoliosis), shortened bones in the feet, premature graying, and severe breathing (respiratory) and feeding problems. (For more information on this disorder, choose "Cri du Chat" as your search term in the Rare Disease Database). Chromosomal disorders that involve extra chromosomes (trisomy) may also be similar to Wolf-Hirschhorn Syndrome. (For more information on these disorders, choose "Trisomy," "Trisomy 13," and "Trisomy 18" as your search terms in the Rare Disease Database). Down Syndrome is a congenital chromosomal disorder involving three copies of chromosome 21. Hypotonia, small stature with awkward gait, and mental deficiency are major symptoms. There also may be inner epicanthic folds around the eyes, iris deformities, small ears with no lobes, and tooth defects. A small nose, flat face, short neck, small hands and fingers, and simian creases of the hands may also occur. Heart defects, dry skin, sparse hair, small penis, and infertility are common symptoms. Seizures, protruding eyes, low placement of ears, and undescended testicles are less frequent symptoms. (For more information on this disorder, choose "Down" as your search term in the Rare Disease Database). Therapies: Standard Wolf-Hirschhorn patients may benefit from reconstructive surgery for cleft lip and palate. Special education, physical therapy, and vocational services may be of benefit for the patient. Genetic counseling may be of benefit for families of children with Wolf-Hirschhorn Syndrome. Other treatment is symptomatic and supportive. Therapies: Investigational A study is being undertaken to study genes associsted with Wolf-Hirschhorn Syndrome people. For more information, interested care-givers may wish to contact: Gilbert N. Jones, III or Susan A. Guckenberger Southern Illinois University School of Medicine Dept. of Pediatrics Genetics and Metabolism P.O. Box 19230 Springfield, IL 62794-9230 (217) 782-8460 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 Wolf-Hirschorn Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Parent Support Group for Wolf-Hirschhorn Syndrome 3200 Rivanna Ct. Woodbridge, VA 22192 (703) 491-0309 Chromosome Deletion Outreach P.O. Box 164 Holtsville, NY 11742 (516) 736-6754 National Institute of Child Health & Human Development (NICHHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 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, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 770. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed.: Kenneth L. Jones; W.B. Saunders Company, 1988. Pp. 38-39.