$Unique_ID{BRK04201} $Pretitle{} $Title{Rubinstein-Taybi Syndrome} $Subject{Rubinstein-Taybi Syndrome Rubinstein Syndrome Broad Thumbs and Great Toes, Characteristic Facies, Mental Retardation Broad Thumb-Hallux Syndrome Hallerman-Streiff-Francois Syndrome Bird-Headed Dwarf of Seckel Treacher Collins Syndrome } $Volume{} $Log{} Copyright (C) 1987, 1989, 1992 National Organization for Rare Disorders, Inc. 461: Rubinstein-Taybi Syndrome ** IMPORTANT ** It is possible the main title of the article (Rubinstein-Taybi 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 Rubinstein Syndrome Broad Thumbs and Great Toes, Characteristic Facies, Mental Retardation Broad Thumb-Hallux Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Hallermann-Streiff-Francois Syndrome Bird-Headed Dwarf of Seckel Treacher Collins 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. Rubinstein-Taybi Syndrome is a rare genetic disorder usually recognizable at birth due to unusual facial features and abnormally wide thumbs and great toes. Mental retardation, small stature, excessive hair growth over the entire body (hirsutism), and various developmental abnormalities may occur. This disorder is not yet clearly distinguished from several other closely related disorders. Symptoms Rubinstein-Taybi Syndrome is present at birth. Major symptoms include a beaked nose, abnormally small skull, a narrow, prominent forehead, and broad thumbs and great toes. The roof of the mouth (palate) is unusually high and narrow. The ears may be low-set and possibly abnormal in shape. Mental retardation may be present. Additional abnormalities which may be exhibited by some patients include excessive hairiness (hirsutism), abnormal curvature of the spine (scoliosis), undescended testicles and/or an angulated penis in males, and congenital heart disease. Eye defects may include blocked or missing tear ducts, and/or eyes not looking in the same direction (strabismus). A small, irregularly-shaped pelvis, kidney, and lung defects may also occur in some individuals. Feeding difficulties, respiratory problems, eye and ear infections, diarrhea, and chronic constipation are common occurrences. Regurgitation, vomiting, gagging, or choking are very common. With time, many patients with this disorder seem to outgrow these problems. Usually their health tends to improve greatly after approximately four or five years of age. Causes The exact cause of Rubinstein-Taybi Syndrome is not known. Scientists believe it is inherited, although the exact mode of transmission has not yet been determined. It is possible that some cases may be caused by a genetic mutation affecting only one generation. Affected Population Since Rubinstein-Taybi Syndrome was first described by Doctors Rubinstein and Taybi in 1963, more than 250 cases have been reported in the medical literature in the United States. According to one study, it may affect approximately one in 300 to 500 institutionalized persons with mental retardation in the United States. There is no estimate for the prevalence among non-institution patients. This disorder affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Rubinstein- Taybi Syndrome. Comparisons may be useful for a differential diagnosis: Hallermann-Streiff-Francois Syndrome, also known as Mandibulo-Oculofacial Dyscephaly, is a syndrome characterized by bony abnormalities of the skull (calvaria), face, and jaw. Patients have a bird-like face with a narrow, curved nose, and a variety of eye defects including abnormally small eyeballs (microphthalmia), abnormally small corneas, and cataracts. A congenital loss of hair (Alopecia Areata) and thinned or absent eyebrows may also occur. This disorder is also called congenital sutural alopecia, progeria (premature aging) with cataract or with microphthalmia, oculomandibulodyscephaly, or Hallermann-Streiff Syndrome. (For more information on this disorder, choose "Hallermann" as your search term in the Rare Disease Database. Bird-Headed Dwarf of Seckel, also known as Nanocephaly, is a genetic disorder characterized by a low birth weight, a slender body, limited height, a beak-like nose, protrusion of the central face, receding chin, possible abnormalities of skin pigmentation, and excessive hair growth (hypertrichosis). Mental development rarely passes the five year old level, and males may have undescended testicles. (For more information on this disease, choose "Seckel" as your search term in the Rare Disease Database.) Treacher Collins Syndrome, also known as Franceschetti-Zwahlen-Klein Syndrome or Mandibulofacial Dysostosis, is a genetic disorder marked by arrested development, and defective bone formation during the prenatal period. A bird-like or fish-like facial appearance may be accompanied by sunken cheek bones, a receding chin with a large wide mouth, low-set and possibly malformed ears, abnormal angle of the nose, abnormal tooth development, and prolongation of the hairline on the cheeks. Loss of hearing, fusion of joints in the limbs and spine, atrophy of thumbs and toes, possible mental retardation, and a defect of the lower eye lids (coloboma) may also occur. (For more information on this disorder, choose "Treacher" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Rubinstein-Taybi Syndrome is symptomatic and supportive. Patients may benefit from services for mentally retarded individuals. Speech therapy, sign language lessons, or an alternative method of communication should be taught as soon as possible. Drugs or surgery may improve some associated symptoms. Antibiotics may be helpful to treat infections. Genetic counseling will be of benefit for patients and their families. Therapies: Investigational 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 Rubinstein-Taybi Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Rubinstein-Taybi Parent Support Group 414 E. Kansas Smith Center, KS 66967 (913) 282-6237 For case documentation of Rubinstein-Taybi Syndrome patients: Jack H. Rubinstein, Director Cincinnati Center for Developmental Disorders Cincinnati, OH 45229-2899 NIH/National Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For information on genetics 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 RUBINSTEIN-TAYBI SYNDROME: FURTHER EVIDENCE OF A GENETIC AETIOLOGY: D.R. Gillies, et al.; Dev Med Child Neurol (December 1985, issue 27(6)). Pp. 751- 755. DOMINANT INHERITANCE OF A SYNDROME SIMILAR TO RUBINSTEIN-TAYBI: P Cotsirilos, et al.; Am J Med Genet (January 1987, issue 26(1)). Pp. 85-93. RUBINSTEIN-TAYBI SYNDROME IN THE NEONATE: R. Gambon, et al.; Helv Paediatr Acta (August 1984, issue 39(3)). Pp. 279-283.