$Unique_ID{BRK04217} $Pretitle{} $Title{Shprintzen Syndrome} $Subject{Shprintzen Syndrome Velocardiofacial Syndrome VCF Syndrome Shprintzen VCF Syndrome DiGeorge Syndrome Fetal Alcohol Syndrome } $Volume{} $Log{} Copyright (C) 1991, 1993 National Organization for Rare Disorders, Inc. 853: Shprintzen Syndrome ** IMPORTANT ** It is possible that the main title of the article (Shprintzen Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Velocardiofacial Syndrome VCF Syndrome Shprintzen VCF Syndrome Information on the following diseases can be found in the Related Disorders section of this report: DiGeorge Syndrome Fetal Alcohol 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. Shprintzen Syndrome is a rare disorder in which cleft palate, heart abnormalities, learning disabilities and distinct physical features are all present. This disorder is inherited as an autosomal dominant trait and is the most common syndrome related to cleft palate without cleft lip. Symptoms The symptoms of Shprintzen Syndrome are: 1. Cleft palate - patients with Shprintzen Syndrome have a mild form of cleft palate. The lobe in the middle of the back of the soft palate (uvula) is split and there is a thin union of the two halves of the palate in the middle with a mucous covering on the rear portion of the mouth. The muscles under the soft palate do not fuse together and a notch can be felt where the hard and soft palates meet. This notch replaces the back spine of the palate. (For more information on this disorder choose "Cleft Lip and Cleft Palate" as your search term in the Rare Disease Database). 2. Abnormalities of the heart - the wall that separates the right and left chambers of the heart which receive blood and then force it back into the arteries (ventricular septal) does not form properly; there may be right aortic arch abnormalities; and a congenital abnormality in which there is obstruction in the outflow from the right ventricle of the heart to the lungs, with an enlarged right ventricle and a displaced aorta that receives blood from both the right and left ventricles (Tetralogy of Fallot). (For more information on this disorder choose "Tetralogy of Fallot" as your search term in the Rare Disease Database). 3. Learning disabilities - mild intellectual delay is present in the majority of patients with Shprintzen Syndrome. The average I.Q. scores in high school age children is 69-87. Problems with abstraction, comprehension in reading and math are usually apparent at school age. Mental retardation is less frequent but may also be present with this syndrome. 4. Distinct physical features - loss of muscle tone (hypotonia), small slender stature, tapered hands and fingers, small head circumference (microcephaly), recessed jaw (retrognathia), tubular nose, flat cheeks, long upper jaw, long vertical groove in the middle of the upper lip (philtrum), blue coloring under the eyes, small outer ears, thick outer rims of the ear, two different sized ears and nasal sounding speech secondary to cleft palate may be present. Some (but not all) of the following additional symptoms may be present in patients with Shprintzen Syndrome: 5. An absent or underdeveloped thymus causing a insufficient production of antibodies. 6. Hearing loss 7. Eye abnormalities - small optic discs, clouding of the lens of the eye or it's surrounding membrane obstructing the passage of light (cataract), abnormal smallness of one or both eyeballs (microphthalmia), and twisted vessels in the optic disc. 8. Curvature of the spine (scoliosis). 9. Rupture or protrusion in the groin or central abdominal region (inguinal or umbilical hernia). 10. Failure of the testes to descend into the scrotum in males (cryptorchidism). 11. Deficiency of calcium in the blood (hypocalcemia). 12. Absent or small adenoids. 13. Absent or small tonsils. 14. Newborn children may have obstructed breathing due to the recessed jaw and loss of muscle tone in the throat area. 15. An abundance of hair on the scalp. Causes Shprintzen Syndrome is inherited as an autosomal dominant trait although there have been several sporadic cases reported with unknown causes. Human 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 dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population Shprintzen Syndrome affects males and females in equal numbers. Approximately 5-8% of the children born with cleft palate (without cleft lip) have this syndrome. Related Disorders Symptoms of the following disorders can be similar to those of Shprintzen Syndrome. Comparisons may be useful for a differential diagnosis: DiGeorge Syndrome is a complex group of congenital malformations among which is susceptibility to recurrent infections due to a deficient immune system and the occurrence of seizures during infancy due to low levels of calcium in the blood. This disorder results from the impaired development of two of the pharyngeal pouches during early development of the fetus. The parathyroid gland which regulates the concentration of calcium in the blood, and the thymus gland which transforms certain lymphocytes into T-cells, (responsible for cellular and long-term immune reactions), are absent or abnormal in DiGeorge Syndrome. This syndrome is often found in patients with Shprintzen Syndrome. (For more information on this disorder choose "DiGeorge Syndrome as your search term in the Rare Disease Database). Fetal Alcohol Syndrome (FAS) is a combination of birth defects involving both physical and mental impairments. Extensive scientific research into the effects of alcohol (ethanol) on a fetus has established that the use of alcohol during pregnancy poses a serious threat to the health of the unborn child. Fetal Alcohol Syndrome is totally preventable if an expectant mother does not drink alcohol. Symptoms of this disorder may be low birth weight, small head circumference, mental retardation, impaired motor coordination, impaired development of the upper jaw, heart problems and genital defects. (For more information on this disorder choose "Fetal Alcohol Syndrome" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Shprintzen Syndrome is symptomatic and supportive. When obstructive apnea is present a tube may be placed into the nasal cavity and pharynx (nasopharyngeal tube) to help with breathing. Surgery to make a pharyngeal flap may be performed in order to help eliminate the nasal sound when speaking. This surgery cannot be performed on patients when there is medial displacement of the carotid arteries. Those patients that cannot have the surgery may be fitted with a prosthetic speech device. Cosmetic surgery may be performed on the nose (rhinoplasty), upper and lower jaws of those patients who want to remove the facial characteristics associated with this syndrome. A team approach should be used in making decisions about the treatment of symptoms in patients with Shprintzen Syndrome. A pediatrician, speech pathologist, orthodontist, plastic surgeon and psychologist may all be called in to consult with the parents. Most patients have mild impairments in speech, language development, and math. This becomes apparent after entering school and special class placement or supplementary educational services usually are required. Eventually most patients are mainstreamed and graduate from high school. When congestion is causing the hearing impairment, the placement of tubes in the ears may be beneficial. Genetic counseling may be of benefit for patients and their families. Therapies: Investigational Orphan Products: The palate of cleft palate patients is closed during early childhood but difficulties may persist if the palate is excessively short in relation to the pharynx. Researchers are studying a teflon- glycerine paste that is applied to the rear of the pharynx in a minor surgical procedure. A rounder ledge or bump is formed, bringing the pharynx and palate into the proper relationship with each other. The hardened paste remains in place indefinitely; no side effects have been observed. Children as young as eight years old have been treated with this procedure. For further information on this procedure contact: William N. Williams, D.D.S. University of Florida College of Dentistry Box J-424 Gainesville, FL 32610 (904) 392-4370 A clinical database is being developed to help with chromosomal information on VCF patients. A DNA bank is being developed at Albert Einstein College of Medicine. Interested persons may contact: Rosalie Goldberg, Genetic Counselor or Robert J. Shprintzen, PhD., Director Center for Craniofacial Disorders 111 E. 210th St. Bronx, NY 10467 (212) 920-4781 (914) 725-4294 (FAX) This disease entry is based upon medical information available through June 1993. 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 Shprintzen Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 203-746-6518 American Cleft Palate Cranial Facial Association 1218 Granview Ave. Pittsburgh, PA 15211 (412) 681-1376 (800) 24CLEFT National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 National Foundation for Facial Reconstruction 550 First Ave. New York, NY 11016 (212) 340-6656 American Heart Association 7320 Greenville Ave. Dallas, TX 75231 (214) 750-5300 National Hearing Association P.O. BOX 8897 Metairie, LA 70011 (504) 888-HEAR NIH/National Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 NIH/National Institute of Dental Research 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4261 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, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 963. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W.B. Saunders Co., 1988. P. 224. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1744-5. VELO-CARDIO-FACIAL SYNDROME (SHPRINTZEN SYNDROME). R. Domenici, et al.; Pediatr Med Chir (Sept-Oct, 1984, issue 6(5)). Pp. 695-7. DI GEORGE ANOMALY AND VELOCARDIOFACIAL SYNDROME. C.A. Stevens, et al.; Pediatrics (April, 1990, issue 85(4)). Pp. 526-30. ABNORMAL CAROTID ARTERIES IN THE VELOCARDIOFACIAL SYNDROME: A REPORT OF THREE CASES. K. MacKenzie-Stepner, et al.; Plast Reconstr surg (September, 1987, issue 80(3)). Pp. 347-51.