$Unique_ID{BRK04105} $Pretitle{} $Title{Phocomelia Syndrome} $Subject{Phocomelia Syndrome Roberts SC-Phocomelia Syndrome SC Phocomelia Syndrome Roberts Tetraphocomelia Syndrome Roberts SC-Phocomelia Syndrome Thalidomide Syndrome Thrombocytopenia-Absent Radius TAR Syndrome} $Volume{} $Log{} Copyright (C) 1990, 1992 National Organization for Rare Disorders, Inc. 780: Phocomelia Syndrome ** IMPORTANT ** It is possible that the main title of the article (Phocomelia 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 Roberts SC-Phocomelia Syndrome SC Phocomelia Syndrome Roberts Tetraphocomelia Syndrome Disorder Subdivisions Roberts SC-Phocomelia Syndrome Thalidomide Syndrome Information on the following disease can be found in the Related Disorders section of this report: Thrombocytopenia-Absent Radius (TAR) 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. Phocomelia Syndrome is a birth defect that may be occur sporadically or be genetically transmitted in some cases. In other cases it may be caused by toxins (such as certain drugs) taken by a pregnant woman. Major symptoms may include growth and mental deficiencies, defects in the eyes, ears, and nose, and characteristic deficient limb development affecting the arms and possibly the legs. Symptoms The primary symptom of Phocomelia Syndrome is deficient limb development. However, the defects of the limbs are variable. Commonly, the upper limbs are affected and sections of the hands and arms may be malformed or missing. The legs and the feet may also be affected. The hands and/or the feet may be attached close to the body or the limbs may be abnormally small. Individuals with Phocomelia Syndrome usually have growth deficiencies before and after birth. In some cases, they also may be mentally retarded. The head may be small with sparse hair that may be silvery-blond. A swelling or mass of blood vessels (hemangioma) may occur on the face. Prominent widely-set eyes (hypertelorism) that have bluish whites, an underdeveloped nose with thin nostrils, malformed ears, cleft lip with or without cleft palate, and small jaws (micrognathia) may also occur. The testes of males may fail to descend (cryptochidism). Less common symptoms include: a gap in the skull with the brain possibly protruding (encephalocele); accumulation of excess spinal fluid under the skull (hydrocephalus) which may cause headaches, vomiting, and convulsions; and small eyeballs (microphthalmia), corneal clouding, cataracts, and eyelid defects. The urethra (the tube leading from the bladder) may open underneath the penis or in females may open into the vagina (hypospadias). An abnormally shaped uterus (bicornate), an abnormally low level of platelets in the blood (thrombocytopenia), kidney and heart abnormalities, a short neck, and cranial nerve paralysis may also occur. Disorder Subdivisions When Phocomelia is caused by drugs, it is usually thought of as the Thalidomide Syndrome. This type of Phocomelia is characterized by severe defects and is caused by the ingestion of the drug Thalidomide (a tranquilizer) during early pregnancy. Thalidomide was widely used outside the United States in the late 1950's and early 1960's. Symptoms may include: limb defects of the arms or all of the limbs, abnormalities of the eyes and the ears with possible deafness, paralysis of the face with possible limited eye movements, heart defects, abnormal passages (fistulas) between the rectum, urethra, and/or vagina, abnormalities of internal organs (such as the gallbladder, appendix, small intestine, and uterus), and failure of the testes to descend in males (cryptochidism). A small percentage of individuals have spinal abnormalities and/or growth deficiencies. This type of Phocomelia can also be caused by the acne drug Accutane. Roberts SC-Phocomelia Syndrome is a birth defect that is genetically inherited through recessive genes and may represent Phocomelia in its mildest form. There have been a number of patients exhibiting overlap of symptoms between the Roberts SC Syndrome and the Thalidomide Syndrome. The two disorders may be different expressions of a gene or represent variable severity of the same disorder. Causes In the cases where Phocomelia Syndrome is inherited, it is transmitted by autosomal recessive genes. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, 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 for the same trait 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. In other cases Phocomelia Syndrome can occur as a result of a woman taking certain drugs during pregnancy or other unknown reasons. The drug Thalidomide caused an unusual surge of babies born with Phocomelia during the 1960's, and the drug Accutane (for treatment of acne) can also cause Phocomelia. Affected Population The hereditary form of Phocomelia is a very rare disorder affecting only a dozen or more babies born each year. Males and females are affected in equal numbers. An upsurge of the number of Phocomelia cases can signal that certain drugs are causing this birth defect. Thalidomide (a tranquilizer) and Accutane (for treatment of acne) can cause Phocomelia in a fetus when ingested by a pregnant woman. Related Disorders Symptoms of the following disorder can be similar to those of Phocomelia Syndrome. Comparisons may be useful for a differential diagnosis: There are many birth defects that can cause malformed or missing limbs. One of these is Thrombocytopenia-Absent Radius (TAR) Syndrome. TAR Syndrome is a genetic disorder characterized by a very low level of the number of platelets in the blood (thrombocytopenia) and the absence or underdevelopment of one of the short bones (radius) in the arm. Thrombocytopenia may cause excessive bleeding from the skin, mucous membranes (thin moist layer lining the body's cavity), or within the skull. Other blood disorders may also occur. The underdevelopment of the other short bone (ulna) of the arm, and defects of the hands, legs, and/or feet may also occur. (For more information on this disorder, choose "TAR" as your search term in the Rare Disease Database). Therapies: Standard Treatment and rehabilitation of the limb deformities of Phocomelia Syndrome should be planned in infancy. Individual prostheses (artificial limbs) and orthopedic braces or appliances (ortheses) may be needed. Genetic counseling may be of benefit for patients and their families if the child has the genetic form of this disorder. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through November 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 For more information on Phocomelia Syndrome, please contact: National Organization for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Child Health and Human Development (NICHHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 Association of Children's Prosthetic and Orthotic Clinics (ACPOC) 317 E. 34th Street New York, NY 10016 National Rehabilitation Information Center (NARIC) 8455 Colesville Road, Suite 935 Silver Spring, MD 20910 (202) 635-5826 Thalidomide Society 19 Upper Hall Park Berkhamsted, Herts HP4-2NP England 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, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 584, 907. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed.: Kenneth L. Jones; W.B. Saunders Co., 1988. Pp. 256-7. ROBERTS-SC PHOCOMELIA SYNDROME: CYTOGENETIC FINDINGS AND CLINICAL VARIABILITY IN THREE BROTHERS: G. Antinolo et al.; An Esp Pediatr (September, 1988, issue 29(3)). Pp. 239-43. TREATMENT AND REHABILITATION OF DYSMELIC CHILDREN: L. Kullmann; Magy Traumatol Orthop Helyreallito Sebesz (1989, issue 32 (2)). Pp. 99-106.