$Unique_ID{BRK03583} $Pretitle{} $Title{Cerebro-Oculo-Facio-Skeletal Syndrome} $Subject{Cerebro-Oculo-Facio-Skeletal Syndrome Cerebrooculofacioskeletal Syndrome COFS Syndrome Pena Shokeir II Syndrome Cockayne Syndrome Neu-Laxova Syndrome Potter Syndrome (Bilateral Renal Agenesis) Seckel Syndrome (Bird-Headed Dwarfism; Nanocephalic Dwarfism) Pena Shokeir Syndrome Type II} $Volume{} $Log{} Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 509: Cerebro-Oculo-Facio-Skeletal Syndrome ** IMPORTANT ** It is possible the main title of the article (Cerebro-Oculo-Facio- Skeletal 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 Cerebrooculofacioskeletal Syndrome COFS Syndrome Pena Shokeir II Syndrome Pena Shokeir Syndrome Type II Information on the following disorders may be found in the Related Disorders section of this report: Cockayne Syndrome Neu-Laxova Syndrome Potter Syndrome (Bilateral Renal Agenesis) Seckel Syndrome (Bird-Headed Dwarfism; Nanocephalic Dwarfism) 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. Cerebro-Oculo-Facio-Skeletal Syndrome is a genetic degenerative disorder of the brain and spinal cord that begins before birth. The disorder is characterized by reduced amounts of white brain matter with gray mottling, lowered muscle tone and diminished or absent reflexes. Abnormalities of the skull, face, eyes, limbs and other parts of the body also occur. Symptoms Cerebro-Oculo-Facio-Skeletal Syndrome was first described in 1974. Symptoms of this disorder include an extremely small head (microcephaly), abnormally small eyes, clouding of the eye's lens (cataract), and a horizontally narrow opening between the eyelids (blepharophimosis). The ears are abnormally large, the upper lip overlaps the lower, the groove in the upper lip (philtrum) is abnormally long, and the jaw is unusually small (micrognathia). In most patients, fixed bending of the elbows and knees (flexion contractures), a hunched back (kyphosis), and bending of one or more fingers (camptodactyly) occurs. Infants with Cerebro-Oculo-Facio-Skeletal Syndrome usually have so-called "rocker bottom" feet and a groove over the length of the soles of the feet. A deformity of the hip (coxa valga) and porous bones (osteoporosis) may also occur. Other features of this disorder include wide-set nipples, failure to thrive, slowed growth (developmental retardation), feeding difficulties and one line in the palm of the hand formed by fusion of the usual two lines (simian crease). Children with Cerebro-Oculo-Facio-Skeletal Syndrome have an increased vulnerability to respiratory infections. Causes Cerebro-Oculo-Facio-Skeletal Syndrome is a genetic disorder inherited through autosomal recessive genes. (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 Cerebro-Oculo-Facio-Skeletal Syndrome is a very rare disorder present at birth. The disorder has occurred in infants of diverse ethnic heritage. Affected siblings are generally born to normal parents who may or may not be closely related. Related Disorders Symptoms of the following disorders can be similar to those of Oculo-Facio- Skeletal Syndrome. Comparisons may be useful for a differential diagnosis: Cockayne Syndrome is a progressive disorder which manifests itself during the second year of life. It is characterized by hypersensitivity to sunlight and dwarfism, accompanied by relatively long extremities. Musculoskeletal abnormalities may include large joints which are habitually flexed, a humpback, and a thickened and relatively small skull. (For more information on this disorder, choose "Cockayne" a your search term in the Rare Disease Database.) Neu-Laxova Syndrome is an autosomal recessive genetic disorder characterized by growth retardation before birth and multiple abnormalities at birth. These abnormalities include a small head (microcephaly) and abnormal limbs, skin, external genitals and afterbirth (placenta). Children with various features common to both COFS Syndrome and Neu- Laxova Syndrome have also been described in the medical literature. Potter Syndrome (Bilateral Renal Agenesis) is a rare condition characterized by a flattened face with a "parrot-beak" nose, wide-set eyes and abnormalities of the eyelids, unusual smallness of the jaw and low-set, floppy ears. They have more skin than necessary and it appears dehydrated. A kidney may be absent or underdeveloped. Skeletal abnormalities such as clubfeet and contracted joints occur frequently among infants with this disorder. Seckel Syndrome (Bird-Headed Dwarfism; Nanocephalic Dwarfism) is an autosomal recessive genetic disorder characterized by low birthweight, an abnormally small head, mental retardation, large eyes, a large beaklike nose, a narrow face, and a receding lower jaw. Multiple deformities such as an underdeveloped thumb, dislocation of the thigh bone head, clubfoot, curvature of the spine, eyes that don't look in parallel directions, and gastrointestinal abnormalities may also occur. Examination of the brain shows a much simplified gross structure of the cerebrum with a relatively intact cerebellum. (For more information on this disorder, choose "Seckel" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of COFS Syndrome is symptomatic and supportive. Genetic counseling is recommended for families of children with the disorder. Therapies: Investigational This disease entry is based upon medical information available through April 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 Cerebro-Oculo-Facio-Skeletal 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 Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 FACES National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 National Craniofacial Foundation 3100 Carlisle St., Suite 215 Dallas, TX 75204 1-800-535-3643 Society for Rehabilitation of the Facially Disfigured 550 First Ave. New York, NY 10016 (212) 340-5400 About Face 99 Crowns Lane Toronto, Ontario M5R 3PA Canada (416) 944-3223 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 report in the Rare Disease Database is based on outlines prepared by medical and dental students (1984-1986) at the Medical College of Virginia for their course in human genetics. CHONDRO-OSSEOUS CHANGES IN CEREBRO-OCULO-FACIO-SKELETAL (COFS) SYNDROME: W.S. Hwang, et al.; Journal Pathol (September 1982: issue 138(1)). Pp. 33- 40. INTRACRANIAL CALCIFICATIONS IN CEREBRO-OCULO-FACIO-SKELETAL (COFS) SYNDROME: S.L. Linna, et al.; Pediatr Radiol (1982: issue 12(1)). Pp. 28- 30. THE NEU-COFS (CERBRO-OCULO-FACIO-SKELETAL) SYNDROME: REPORT OF A CASE: M.C. Silengo, et al.; Clin Genet (February 1984: issue 25(2)). Pp. 201-204.