1. SUNY Upstate Medical University: Department Of Otolaryngology And Communication Overview of VCFS describing condition, causes and red flags. Provides contacts for more information and treatment. By the Center for the Diagnosis, Treatment and Study of velocardio-facial syndrome, SUNY Upstate Medical University (USA). http://www.upstate.edu/ent/velo.shtml

Services Residency Program Craniomaxillofacial Fellowship Program ... Home ...Upstate Menu... Contacting Upstate Upstate Calendar Telephone Lookup E-mail Lookup Colleges: -Medicine -Graduate Studies -Nursing -Health Professions Library Employment Departments Search Page University Hospital Upstate Home Velo-Cardio-Facial Syndrom: Center for Diagnosis Treatment and Study A child with a single serious health problem is a major challenge for any family. But the families who seek out University Hospital's Robert Shprintzen, Ph.D., grapple with dozens of serious health problems. Their children suffer from Velo-Cardio-Facial Syndrome (VCFS), and Dr. Shprintzen is the world's authority on this complexand perplexingand surprisingly common genetic disorder Hign Occurrances Commonly known as Shprintzen syndrome, VCFS is a genetic condition that impairs almost every bodily function and occurs as often as one in every 2000 births. According to Dr. Shprintzen, this little-known syndrome could be second in frequency only to Down's syndrome. A staggering array of 180 anomalies are associated with Shprintzen syndrome. The problems first appear in infancy, when a child may suffer from: congenital heart abnormalities cleft palate serious feeding problems breathing problems.

2. VCFS Educational Foundation, Inc Main Page Notfor-profit, self-help organization offers family programs, education materials, newsletter, and a parent-to-parent networking. Seek a VCFS fact sheet in .pdf format. http://www.vcfsef.org/

Velo-Cardio-Facial Syndrome Educational Foundation, Incorporated You are visitor number: Site Updated: Mar 1, 2003 2003 VCFSEF Conference (Click Photo Below) August 1 - 3, 2003 San Diego, California Quick Finder Choose from List Home About VCFS Contact Us FAQs Mission Membership Newsletters Officers Spanish Information Support Groups Your comments are welcome. This site maintained by: Kelvin P. Ringold Home About VCFS Contact Us ... WHATZ NEW? Register for the 9th Annual VCFSEF Conference in San Diego, CA CLICK HERE for more info Welcome to the Official Web Site of the Velo-Cardio-Facial Syndrome (VCFS) Educational Foundation, Inc. The Foundation is an international not-for-profit, self-help organization dedicated to providing support and information to individuals who are affected by Velo-Cardio-Facial syndrome, their families, physicians and other practitioners. The Foundation is independent of and not affiliated with any particular institution. VCFS also known as the Shprintzen Syndrome, DiGeorge Sequence and, regrettably, Catch 22 is caused by the deletion of a small segment of the long arm of chromosome 22 (specified as 22q11.2 deletion), and is one of the most common genetic disorders in humans. Velo-Cardio-Facial syndrome is characterized by cleft palate, heart abnormalities, learning disabilities, and over 180 other clinical findings. Please see the

3. Velo-Cardio-Facial Syndrome VCFS Foundation (Qld) Inc was established to help and support groups of VCFS sufferers and their families, with the view to social contact, sharing information and educating people about VCFS. http://www.kumc.edu/gec/support/velo.html

Velo-Cardio-Facial Syndrome (22q deletion, chromosome 22q11.2 deletion, Shprintzen syndrome, DiGeorge syndrome) Velo-Cardio-Facial Syndrome (VCFS) Educational Foundation, Inc. (also, spanish List of over 175 findings reported with 22qdel international groups Also See: National organizations with information on genetic conditions or birth defects 22q11 Deletion , GeneClinics DiGeorge Syndrome CHARGE syndrome 22q and you newslette r , Children's Hospital of Philadelphia Faces of Sunshine , 22q and You Center, Book, $10.00 US checks or money orders to "Clinical Genetics, Education Fund #27087-275760000 ( not purchase orders or credit card payment), c/o Melissa Tonnesen, MS, The Children’s Hospital of Philadelphia, The 22q and You Center, Main Building, Room 2150, 34th Street and Civic Center Blvd., Philadelphia, PA 19104, e-mail: tonnesen@email.chop.edu DiGeorge Syndrome , NIH, NCBI DiGeorge Anomaly , PEDBASE DiGeorge Syndrome , National Institutes of Health, National Library of Medicine DiGeorge Syndrome , Online Mendelian Inheritance in Man (OMIM) History of the 22q11.2 Deletion

4. SAIDA, Velo-Cardio-Facial Syndrome A definition of velocardio-facial syndrome along with a support group in Johannesburg. http://sunsite.wits.ac.za/saida/disorder/vcfs.html

VCFS, also known as Shprintzen Syndrome, and sometimes presenting as the Di George Sequence, is caused by the deletion of a small segment of the long arm of chromosome 22 ( specified as 22q11.2 deletion). VCFS is characterised by heart abnormalities, palatal problems causing speech difficulties, hearing problems and learning difficulties. Children with VCFS have similar facial characteristics although these are not always noticeable. In addition, there can be immune system deficiencies and psychological problems. In fact, there are over 180 anomalies which can be caused by the deletion. However, none occur with a 100% frequency and some persons may be affected very mildly whilst at the other end of the spectrum others may be severly affected. More often than not, the problems relating to VCFS are dealt with in isolation. Yet for the successful intervention and handling of VCFS a team approach is essential. Thus there is a need for VCFS to be acknowledged and recognised amongst the medical fraternity, speech therapists, educators and parents. We will therefore be producing a handbook and leaflets in due course. Should you know of any families affected by the syndrome please feel free to direct them to us. We will be happy to provide further information on request.

5. VCFS Educational Foundation, Inc Main Page Details about this organization as well as an extensive fact sheet about the disease. Includes details about support groups, a mission statement and contact information. http://vcfsef.org/

Velo-Cardio-Facial Syndrome Educational Foundation, Incorporated You are visitor number: Site Updated: Mar 1, 2003 2003 VCFSEF Conference (Click Photo Below) August 1 - 3, 2003 San Diego, California Quick Finder Choose from List Home About VCFS Contact Us FAQs Mission Membership Newsletters Officers Spanish Information Support Groups Your comments are welcome. This site maintained by: Kelvin P. Ringold Home About VCFS Contact Us ... WHATZ NEW? Register for the 9th Annual VCFSEF Conference in San Diego, CA CLICK HERE for more info Welcome to the Official Web Site of the Velo-Cardio-Facial Syndrome (VCFS) Educational Foundation, Inc. The Foundation is an international not-for-profit, self-help organization dedicated to providing support and information to individuals who are affected by Velo-Cardio-Facial syndrome, their families, physicians and other practitioners. The Foundation is independent of and not affiliated with any particular institution. VCFS also known as the Shprintzen Syndrome, DiGeorge Sequence and, regrettably, Catch 22 is caused by the deletion of a small segment of the long arm of chromosome 22 (specified as 22q11.2 deletion), and is one of the most common genetic disorders in humans. Velo-Cardio-Facial syndrome is characterized by cleft palate, heart abnormalities, learning disabilities, and over 180 other clinical findings. Please see the

6. Craniofacial/Oral Findings 1. Overt, Submucous Or Occult velocardio-facial syndrome Specialist Fact Sheet. Velo-cardio-facialsyndrome (VCFS), also known as Shprintzen syndrome, sometimes http://www.vcfsef.org/facts.html

Velo-Cardio-Facial Syndrome Specialist Fact Sheet Velo-cardio-facial syndrome (VCFS) , also known as Shprintzen syndrome , sometimes presenting as the DiGeorge sequence , is caused by a deletion of a small segment of the long arm of chromosome 22. It is one of the most common genetic disorders in humans. The following list shows the anomalies which have been found in VCFS. No findings have a 100% frequency, but all occur with sufficient frequency to warrant assessment if suspected. If you have any questions, or if you would like to learn more about VCFS, you may reach The Velo-Cardio-Facial Syndrome Educational Foundation by telephone at , by fax at , or by email at vcfsef@hscsyr.edu Craniofacial/Oral Findings 1. Overt, submucous or occult submucous cleft palate 2. Retrognathia (retruded lower jaw) 3. Platybasia (flat skull base) 4. Asymmetric crying facies in infancy 5. Structurally asymmetric face 6. Functionally asymmetric face 7. Vertical maxillary excess (long face) 8. Straight facial profile 9. Congenitally missing teeth

7. SUNY Upstate Medical University: The Foundation velocardio-facial syndrome Endowment. Velo children. For more informationon velo-cardio-facial syndrome please visit our website. http://www.upstate.edu/foundation/campaigns.shtml

Alumni Associations Foundation Home University Home Campaigns Endowment Campaigns An endowment can be established to benefit a particular department at Upstate Medical University in one of several categories: professorship deanship directorship other named endowment. Endowed campaigns are generally scheduled over a five-year period, and departments are expected to make a 25% leadership commitment to the overall goal. During the campaign, the Foundation coordinates all related fund-raising efforts such as identifying prospects; developing a campaign timetable; designing, printing and mailing campaign materials; and receipting and acknowledging gifts and pledges. Friend In Deed The Foundation conducts an annual campaign called Friend in Deed Children's Miracle Network University Hospital at SUNY Upstate Medical University was asked to join the Children's Miracle Network in 1984. Over the years, CMN has raised more than $9 million dollars for the pediatric departments at University Hospital and another area hospital. Its offices and staff are part of the Upstate Medical University Foundation. Current Endowment Campaigns The John Bernard Henry, M.D. Endowed Professorship in Experimental Pathology

8. Velo-Cardio-Facial Syndrome of VCFS ResearchProject MOLECULAR ASPECTS OF THE velo-cardio-facial syndrome.......velocardio-facial syndrome Research Institute. http://www.kumc.edu/gec/support/vcfsres.html

Velo-Cardio-Facial Syndrome Research Institute Project Closed July 2002, research may continue under the Harvard Medical School IRB pending approval. Description of VCFS Research Project: MOLECULAR ASPECTS OF THE VELO-CARDIO-FACIAL SYNDROME In the molecular biology laboratories of Dr. Raju Kucherlapati, Dr. Arthur Skoultchi and Dr. Bernice Morrow at The Albert Einstein College of Medicine efforts to examine the molecular basis of a pair of related human genetic disorders: velo-cardio facial (VCFS) and DiGeorge (DGS) syndromes have been conducted for the past six years. Individuals affected by these disorders have several developmental defects including cardiac anomalies and psychiatric phenotypes. The individuals have a characteristic deletion of a part of human chromosome 22 and it is believed that the presence of a single copy of a gene(s) in this region (haploinsufficiency) causes the disorder. We are utilizing a combination of genetic and molecular biological approaches to identify the gene(s) responsible for these disorders. Rosalie Goldberg a genetic counselor at The Albert Einstein College of Medicine will be happy to answer your questions. Identification of genes for this disorder provides a unique opportunity to understand the molecular basis for the clinical findings of VCFS and DGS and to gain insight into normal human embryonic development. We have constructed a physical and genetic map of 22q11. By genotyping large numbers of VCFS/DGS patients with genetic markers that have been integrated within the physical map, we have been able to define their deletions. We have isolated several genes within the smallest region of deletion overlap, termed the critical region for VCFS/DGS. A major effort in the lab is to determine the pattern of expression of each gene during embryonic/fetal development as well as in adult tissues.

9. Velo-Cardio-Facial Syndrome / The Family Village / Library Library U V. velo-cardio-facial syndrome. See Also DiGeorge Syndrome,Craniofacial Disorders. velo-cardio-facial syndrome Research. Web Sites. http://www.familyvillage.wisc.edu/lib_vcfs.htm

Velo-Cardio-Facial Syndrome See Also: DiGeorge Syndrome Craniofacial Disorders Who to Contact Where to Go to Chat with Others ... Search Google for "Velo-Cardio-Facial Syndrome" Who to Contact VCFS Educational Foundation, Inc. Upstate Medical University University Hospital 708 Jacobsen Hall (C.D.U.) 750 East Adams Streeet Syracuse, NY 13210 Telephone: (315) 464-6590 FAX: (315) 464-6593 Email: vcfsef@mail.upstate.edu Web: http://www.vcfsef.org/ Where to Go to Chat with Others VCFS Discussion Forum VCFS The Velo-Cardio-Facial Syndrome and DiGeorge Syndrome List Learn More About It An Article from the OMIM Data Base Learning difficulties and the VCFS Child Velocardiofacial Syndrome From the National Institutes of Health A Brief Overview of Some Affected Areas A Parents’ Guide Everything You Need to Know About Velo-Cardio-Facial-Syndrome Di George Syndrome Frequently Asked Questions about VCFS Velo-Cardio-Facial Syndrome Research Web Sites Velo-Cardio-Facial Syndrome and DiGeorge Syndrome Velo-Cardio-Facial Syndrome Educational Foundation Velo-Cardio-Facial Syndrome The 22q11 Group - United Kingdom ... Whitney's Page Back to [ U - V Family Village Home Library Coffee Shop ... Information Last Updated 1/8/2003 by rowley@waisman.wisc.edu

10. Velo-Cardio-Facial Syndrome (VCFS) And DiGeorge Syndrome velocardio-facial syndrome (VCFS) and DiGeorge Syndrome On-Line Discussion Groups.Chat Rooms. velo-cardio-facial syndrome (VCFS) and DiGeorge Chat Room. http://www.familyvillage.wisc.edu/lists/digeorge-vcfs.html

Velo-Cardio-Facial Syndrome (VCFS) and DiGeorge Syndrome On-Line Discussion Groups Chat Rooms Velo-Cardio-Facial Syndrome (VCFS) and DiGeorge Chat Room Mailing Lists Velo-Cardio-Facial Syndrome (VCFS) Digest This is a discussion forum for those interested in Velo-Cardio-Facial Syndrome and DiGeorge Syndrome. To join send an e-mail message to: listserv@maelstrom.stjohns.edu In the body of the message type: Subscribe VCFS Your Name *Available in digest form If you know of an on-line discussion group that should be added to the list, please send a note to Linda Rowley at: rowley@waisman.wisc.edu Last Updated August 24, 1998 by rowley@waisman.wisc.edu Document Source: http://www.familyvillage.wisc.edu/lists/autism.htm

11. Velo-Cardio-Facial Syndrome Research velocardio-facial syndrome Research. What is velo-cardio-facial syndrome?Velo A 4 years old girl with velo-cardio-facial syndrome. The http://www-cap.stanford.edu/research/syndromes_disorders/vcfs/

Velo-Cardio-Facial Syndrome Research What is Velo-Cardio-Facial Syndrome? Velo-Cardio-Facial syndrome (VCFS) is a genetic, autosomal dominant condition defined by Shprintzen in 1978. Its frequency is estimated at 1 per 4000 live births. In most patients, a deletion (Figure 2) on chromosome 22q11.2 (Figure 1a and 1b) is responsible for the syndrome. Most of these deletions occur spontaneously (are not inherited from parent to child). Figure 1a. Click on the chromosome 22 (circled in red) to magnify the chromosome and see the region involved in VCFS. Figure 2. Normal chromosome FISH picture (left) and that affected with VCFS (right). Note that on the right panel a pair of yellow dots (tags) are missing due to the presence of a deletion. A 4 years old girl with Velo-Cardio-Facial syndrome The features of VCFS include cardiac malformations, cleft palate or velopharyngal insufficiency, a characteristic facial appearance, learning disabilities and more than 40 other physical anomalies (Goldberg et al., 1993, http://www.vcfsef.org/facts.html

12. Publications - Velo-Cardio-Facial Syndrome velocardio-facial syndrome Eliez S, Palacio-Espasa F, Spira A, et al. Young childrenwith velo-cardio-facial syndrome Psychological and language phenotypes. http://www-cap.stanford.edu/pubs/vcfs.html

Velo-Cardio-Facial Syndrome Eliez S, Palacio-Espasa F, Spira A, et al.: Young children with velo-cardio-facial syndrome: Psychological and language phenotypes. European Child and Adolescent Psychiatry (in press). Children and Adolescents with Velo-Cardio-Facial Syndrome: a Volumetric MRI Study. Eliez S., Schmitt E.J., White C.D., Reiss A.L. Accepted in American Journal of Psychiatry CAP Publications Autism Developmental Psychopathology Eating Disorders ... Sex Chromosomal Abnormalities Velo-Cardio-Facial Syndrome Williams Syndrome

13. The DRM WebWatcher: Velo-Cardio-Facial Syndrome velocardio-facial syndrome (VCFS) is a genetic disorder that has been associatedwith over thirty different features, including cleft palate, heart defects http://www.disabilityresources.org/VELO.html

Home Subjects States Librarians ... Contact Us The DRM WebWatcher Velo-Cardio-Facial Syndrome (Shprintzen Syndrome) Updated 3/26/2001 A B C D ... About/Hint/Link Velo-Cardio-Facial syndrome (VCFS) is a genetic disorder that has been associated with over thirty different features, including cleft palate, heart defects, characteristic facial appearance, minor learning problems, and speech and feeding problems. It is caused by a deletion of a small segment of chromosome 22. It is also called Shprintzen syndrome, DiGeorge syndrome, craniofacial syndrome, conotruncal anomaly unusual face syndrome, 22q11, and catch 22. 22q and You Newsletter This quarterly publication of The Children's Hospital of Philadelphia also provides information about the history and medical needs of children with 22q.11 deletions. 22q11 Deletion Syndrome This GeneClinics page provides clinical information relating genetic testing to the diagnosis, management, and genetic counseling of individuals and families. Velo-Cardio-Facial Syndrome Though not recently updated, this website by the parents of a child with VCFS includes a useful selection of articles and abstracts, support groups, personal contacts, and more.

14. The DRM WebWatcher: Specific Disabilities (Index) listed on our Rare Disorders page. 22q11 (velocardio-facial syndrome);Agnosia, Visual (Prosopagnosia); Albinism; Allergy and Asthma; http://www.disabilityresources.org/SPECIFIC.html

Home Subjects States Librarians ... Contact Us The DRM WebWatcher (Subjects) Specific Disabilities (Index) Updated 1/2002 A B C D ... About/Hint/Link The DRM WebWatcher contains separate pages on the following disabilities and disorders. For other conditions, check out the sites listed on our Rare Disorders page. 22q11 (Velo-Cardio-Facial Syndrome) Agnosia, Visual (Prosopagnosia) Albinism Allergy and Asthma ... Xeroderma Pigmentousm Related Subjects Other Topics (The DRM WebWatcher Complete Index) Rare Disorders Resources in your state (c) 1997-2002 Disability Resources, inc.

15. Velo-Cardio-Facial Syndrome velocardio-facial syndrome My great-niece was born six weeks prematurelyand has heart problems. Through testing, the physicians http://www.parentsplace.com/health/illnesses/qas/0,,200533_101286,00.html

var cimsCid = ''; var cimsUid = '101286'; main COMMUNITY Message Boards Chats ... Community Challenges find on iVillage on astrology on babies on beauty on books on food on health on lamaze.com on money on parenting on pets on relationships on women.com on work MAGAZINES on Cosmopolitan on Country Living on Good Housekeeping on House Beautiful on Marie Claire on Redbook on Victoria you are here: iVillage parentsplace health illnesses ... Talent Test more centers iMaternity Shop Amazon RECOMMENDED Baby-Making Basics Are You Pregnant? Chinese Gender Chart Top Baby Names by State ... Postpartum Depression: Are You at Risk? WHAT'S NEW Best Advice for Life after Baby Twin Pregnancy Symptoms Week-by-Week Pregnancy Guide TOPICS Activities and fun Ages and stages Behavior problems Child health ... Parenting A-Z FEATURES Boards Chats Experts Quizzes ... Tools FREE NEWSLETTERS ParentsPlace more newsletters Velo-Cardio-Facial Syndrome My great-niece was born six weeks prematurely and has heart problems. Through testing, the physicians discovered that she is missing chromosome 22. What sort of short and/or long term effects will this have on her growth and development? Robert Steele Robert W. Steele, M.D., is a board certified pediatrician at St. John's Regional Health Center in Springfield, Missouri.

16. Velo-Cardio-Facial Syndrome, Cincinnati Childrens Hospital Medical Center Velocardiofacial Syndrome (VCFS). Shprintzen Syndrome, Craniofacial Syndromeor Conotruncal Anomaly Face Syndrome What is velocardiofacial syndrome? http://www.cincinnatichildrens.org/Health_Topics/heart-encyclopedia/disease/synd

Heart Center Encyclopedia Introduction Cardiac Anomalies / Congenital Heart Defects Heart Diseases ... Marfan Syndrome Velo-Cardio-Facial Syndrome VACTERL (VATER) Association Signs and Symptoms Cardiac-Related Diagnostic Methods Treatment Options ... Glossary Heart-Related Syndromes Velocardiofacial Syndrome (VCFS) Shprintzen Syndrome, Craniofacial Syndrome or Conotruncal Anomaly Face Syndrome Explanation Causes How Common? Kinds of Problems ... Resources What is velocardiofacial syndrome? Velocardiofacial Syndrome might be referred to by other names including Shprintzen Syndrome, Craniofacial Syndrome, or Conotruncal Anomaly Face Syndrome. The name Shprintzen Syndrome comes from physician Dr. Robert Shprintzen of the Center for Craniofacial Disorders, who, in 1978, described a series of 12 children with a cleft palate (incomplete closure of the roof of the mouth), heart defects (abnormalities of the heart from the time of birth) and similar facial characteristics. The name Velocardiofacial Syndrome comes from the Latin words "velum" meaning palate, "cardia" meaning heart, and "facies" having to do with the face thus incorporating the most common features of cleft palate, heart defects, and a characteristic facial appearance. Other common findings include minor learning problems and speech and feeding problems.

17. Velo-Cardio-Facial Syndrome, Cincinnati Childrens Hospital Medical Center Velocardiofacial Syndrome (VCFS). Shprintzen Syndrome, Craniofacial Syndromeor Conotruncal Anomaly Face Syndrome What is velocardiofacial syndrome? http://www.cincinnatichildrens.org/Health_Topics/heart-encyclopedia/disease/synd

18. Velo-Cardio-Facial Syndrome Back Home Next. velocardio-facial syndrome. velo-cardio-facial syndrome EducationalFoundation. Copyright of Ability All Rights Reserved1990 Webmaster . http://www.ability.org.uk/Velo-Cardio-Facial_Syndrome.html

"see the ability, not the disability" You to can help support the Ability Project by: Our Aims ... Z Velo-Cardio-Facial Syndrome Velo-Cardio-Facial Syndrome Educational Foundation Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

19. The Contact A Family Directory - VELO-CARDIO-FACIAL SYNDROME printer friendly, velocardio-facial syndrome, velo-cardio-facial syndromeVCFS SHPRINTZEN SYNDROME 22q11deletion DiGeorge syndrome CATCH 22. http://www.cafamily.org.uk/Direct/v14.html

printer friendly VELO-CARDIO-FACIAL SYNDROME home more about us in your area conditions information ... how you can help search this site VELO-CARDIO-FACIAL SYNDROME: VCFS: SHPRINTZEN SYNDROME: 22q11deletion: DiGeorge syndrome: CATCH 22 The velo-cardio-facial syndrome combines congenital heart abnormalities with cleft palate , short stature and a characteristic facial appearance: unusually small head, prominent nose and small mouth and chin. Developmental delay and/or learning difficulties , which are usually mild, may occur. The number and severity of symptoms may vary greatly from case to case. There is considerable overlap with DiGeorge syndrome , and the majority of patients in both these groups can be shown to have a tiny piece missing from the long arm of one of the 22nd pair of chromosomes. This is known as a 22q11 deletion . The effects of this deletion are extremely variable and the syndrome is given a variety of names, (for example, Velo-cardio-facial syndrome (VCFS), DiGeorge syndrome (DGS), Shprintzen syndrome, 22q11 deletion syndrome, CATCH 22), depending on the symptoms and signs in an individual and who makes the diagnosis. Inheritance patterns Autosomal dominant inheritance, although many cases are sporadic.

20. The Contact A Family Directory - 22Q11 DELETIONS 22q11 Deletions DiGeorge syndrome (DGS) velocardio-facial syndrome(VCFS) Shprintzen syndrome CATCH 22. The effects of this http://www.cafamily.org.uk/Direct/22.html

printer friendly 22Q11 DELETIONS home more about us in your area conditions information ... how you can help search this site 22q11 Deletions: DiGeorge syndrome (DGS): velo-cardio-facial syndrome (VCFS): Shprintzen syndrome: CATCH 22 The effects of this chromosome deletion are extremely variable and the syndrome is given a variety of names, such as Velo-cardio-facial syndrome (VCFS) (see separate entry), DiGeorge syndrome (DGS) (see separate entry), Shprintzen syndrome, 22q11 deletion syndrome or CATCH 22, depending on the symptoms and signs in an individual and who makes the diagnosis. The most frequently noted problems are congenital heart defects , reduced resistance to infection due to partial or complete absence of the thymus gland, low calcium levels due to abnormality of the parathyroid glands, cleft palate or abnormal function of the palate, learning difficulties and/or delayed development, which is usually mild. Short stature is common and there tends to be a characteristic facial appearance with unusually small head, small mouth and prominent nose. Inheritance patterns Autosomal dominant inheritance, although many cases are sporadic (not inherited from either parent).

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