41. Syndromes Velocardio-facial syndrome (VCFS), also known as shprintzen syndrome, sometimespresenting as the DiGeorge sequence, is caused by a deletion of a small http://www.healthyhearing.com/relatedlinks/show.asp?subCatId=15

42. Di George/Velocardiofacial Syndrome - FISH Analysis FISH)based assays for identifying the deletions of 22q associated with DiGeorgesyndrome, velocardiofacial syndrome, shprintzen syndrome and isolated http://www.bcmgeneticlabs.org/tests/cyto/digeorgevelocardiofacial.html

DIGEORGE/VELOCARDIOFACIAL SYNDROME FISH ANALYSIS Open Page in New Window Print This Page Return to Search The Kleberg Cytogenetics Laboratory offers fluorescence in situ hybridization (FISH)-based assays for identifying the deletions of 22q associated with DiGeorge syndrome, velocardiofacial syndrome (VCFS), Shprintzen syndrome and isolated conotruncal cardiac defects, and deletions on 10p associated with the DiGeorge Syndrome II locus. The laboratory tests for both critical regions (10p13p14 and 22q11.2) using a dual-probe FISH assay. Clinical Features: The phenotypic features of DiGeorge syndrome consist of thymic aplasia or hypoplasia, hypocalcemia and conotruncal cardiac defects. Many patients die of cardiac complications or infections due to poor immunity. Velocardiofacial (Shprintzen) syndrome often presents with overt or submucous cleft palate, conotruncal defects, hypotonia, dysmorphic facies, developmental delay, small stature and velopharyngeal incompetence. Because of significant overlap of both syndromes, some clinicians refer to this syndrome as 22q11 deletion syndrome. There is significant inter- and intrafamilial clinical variability due to deletion of 22q11. A second deletion of 10p13p14 (DiGeorge Syndrome II) has been associated with similar clinical features.

43. Cleft Advocate - Syndromes Retrognathia. SaethreChotzen. shprintzen syndrome (See VeloCardioFacialSyndrome). Stickler Syndrome. Sticklers.org. Definition, information http://www.cleftadvocate.org/syndromes.html

@import url(http://www.homestead.com/~media/elements/Text/font_styles.css); Amniotic Band Syndrome Amniotic Band Syndrome Information and personal stories ABS Support Network A Yahoo group The ClubFoot Club About ABS and its many manifestations, including cleft lip and palate Apert Syndrome A Guide to Understanding Apert Syndrome From the Children's Craniofacial Association Aperts Overview Discusses similarities between Aperts and Crouzons Teeter's Page www.apert.org The Apert Listserv Correspond with other Aperts families Arhinia Simply Kristi An incredible website! Beckwith-Wiedemann Beckwith-Wiedemann Syndrome From the Pediatric Database (refers to midface hypoplasia) The Beckwith-Wiedemann Support Group Information and support includes on-line support group Beckwith-Wiedemann Group UK Birthmarks/Hemangiomas/Vascular Malformations Birthmarks.com Frequently asked questions, treatment resources and more My Port Wine Stain Personal stories and links to information on treatment, make-up and more! Skin Tumors, Vascular Lesions, Face and Neck Co-authored by Jeffrey S Zapalac, MD and John E McClay, MD Hemangioma News Line Information and newsletter Hemangiomas of the Head and Neck By Bert W. O'Malley, MD

44. DiGeorge Syndrome - Lucile Packard Children's Hospital Dr. Shprintzen named this group of features velocardio-facial syndrome,but the syndrome is also referred to as shprintzen syndrome. http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/diabetes/digeorge.html

Diabetes Clinic Endocrinology Endocrinologists Diabetes and Other Endocrine and Metabolic Disorders DiGeorge Syndrome The Thymus and Parathyroid Glands The thymus gland is located behind the breastbone and is responsible for the maturation of T-cells to fight infections. The four parathyroid glands are located adjacent to the thyroid gland in the neck and regulate calcium in the blood through the production of parathyroid hormone. What is DiGeorge syndrome? The history of the syndrome, previously referred to as DiGeorge, includes the following discoveries: In the mid 1960s, an endocrinologist named Angelo DiGeorge, MD, recognized that a particular group of clinical features frequently occurred together, including the following: hypoparathyroidism (underactive parathyroid gland), which results in hypocalcemia (low blood calcium levels) hypoplastic (underdeveloped) thymus or absent thymus, which results in problems in the immune system conotruncal heart defects (i.e., tetralogy of Fallot, interrupted aortic arch, ventricular septal defects, vascular rings) cleft lip and/or palate The name DiGeorge syndrome was applied to this group of features.

45. Chromosome 22 Syndromes Both chromosomes 22 were of paternal origin 22q11 DELETION SYNDROME from PARENT SUPPORTGROUP VELOCARDIO-FACIAL SYNDROME shprintzen syndrome DiGEORGE SYNDROME http://ibis-birthdefects.org/start/digeorge.htm

Tips for printing Chromosome 22 related Syndromes Cat Eye CES CHARGE DiGeorge Shprintzen VCF Velocardiofacial About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings Please Explore: Cleft Lip Palate Micrognathia Pierre Robin Support Groups ... Key Information Sources Topics Include the Titles above and 11 / 22 Translocation 22q11 Deletion S. Conotruncal Face A. Hypoplasia of Thymus and Parathyroids S. Opitz S. Schmid Fraccaro S. Takao VCF S. Third and Fourth Pharyngeal Pouch S. VCFS Special Resources DiGeorge A Selection of Internet Sites [*] Outstanding [P] For Professionals [S] Support Group [Dutch] [French] [German] [Spanish] [Swedish] [Ukrainian] [S] C22C Chromosome 22 Central from PARENT SUPPORT GROUP FOR CHROMOSOME 22 RELATED DISORDERS COMPLETE TRISOMY 22 from PARENT SUPPORT GROUP Complete trisomy 22 happens when an extra (third) copy of chromosome 22 is present in every cell of the body ... CLINICAL FEATURES MAY INCLUDE microcephaly abnormal ears webbed neck cadiac abnormalities long fingers kidney problems (missing, extra, or underdeveloped kidneys)

46. Autonomic Differential Diagnosis length SMADs. Clinical May appear in isolation (Nonsyndromic) or withother systemic; Goldberg-shprintzen syndrome; Neonatal Hypotonia http://www.neuro.wustl.edu/neuromuscular/autonomic.html

Front Search Index Links ... Patient Info AUTONOMIC DISORDERS Diseases or syndromes Acute Amyloidosis Catecholamines ... Urinary Other Pavlov laboratory External links Canine dysautonomia Pupil disorders From Horsley Gantt AUTONOMIC DISEASE SYNDROMES Systemic diseases Amyloidosis Diabetes Mellitus Porphyria Infections Chagas' HIV Leprosy Rabies Chronic renal or hepatic disease: Usually subclinical Immune disorders Acute Dysautonomia Paraneoplastic : Especially Small cell lung cancer Sensory neuronopathy: anti-Hu Dysautonomia Enteric neuropathy anti-Hu ... LEMS ? Collagen Vascular Disorders System Degenerations Idiopathic Orthostatic Hypotension Shy-Drager (Multiple systems atrophy) Parkinsonism : DOPA responsive Mitochondrial - MNGIE M yopathy and external ophthalmoplegia; N europathy; G astro- I ntestinal; E ncephalopathy) Neuronal intranuclear inclusion disease (NIID) Hereditary autonomic disorders Congenital Anhidrotic ectodermal dysplasia Aniridia : Paired box gene 6; 11p13 Biemond congenital anaesthesia (HSAN 2) Hirschsprung's congenital megacolon Hypoventilation Lacrimation: Absence Other congenital dysautonomias ... Riley-Day (HSAN 3): 9q31 Sensory PN + anhidrosis (HSAN 4): TRKA/NGF receptor; 1q21-q22

47. Syndrome Notes for physicians on 22q11 Deletion Syndrome (shprintzen syndrome, DiGeorgeSyndrome (DGS), Velocardiofacial Syndrome (VCFS), Conotruncal Anomaly Face http://omni.ac.uk/browse/mesh/C0039082L0039082.html

low graphics Syndrome broader: Disease View dysmorphic syndrome features A list of dysmorphic syndromes, listing the phenotypic features associated with them. The syndromes range alphabetically from aagenaes to Zelleger syndrome, including band heterotopia, dysosteosclerosis, Ebstein anolamy, Fraxe mental retardation, juvenile polyposis, pachyonychia congenita, and stiff skin syndrome. Taken from the Dysmorphic Human-Mouse Homology Database (DHMHD), from the Institute of Child Health, University of London. Provided on the web by the Human Genome Mapping Project Resource Centre. Syndrome Phenotype Databases, Factual Alstrom Syndrome Support Group - UK Alstrom Syndrome is a very rare condition, with symptoms including childhood blindness, early hearing loss, diabetes, cardiomyopathy and kidney failure. The Alstrom Syndrome Support Group aims to alleviate suffering, and provide support for those with Alstrom Syndrome, and raise public awareness. This Web site provides information on what Alstrom Syndrome is, the clinical features, a newsletter and current research. A discussion list for anyone with an interest in this topic is also available, which aims to enable clinicians, carer and sufferers to share experiences. Syndrome Genetic Diseases, Inborn

48. Cleft Lip And Palate And Velocardiofacial Syndrome [from CLAPA Ireland] VCFS is also known as shprintzen syndrome after Dr. Robert Shprintzenwho first described it in 1978. Though the two terms are often http://www.cleft.ie/related/vcfs.htm

You are here: Home Page Related Syndromes Velocardiofacial Syndrome Velocardiofacial Syndrome VCFS is also known as Shprintzen syndrome after Dr. Robert Shprintzen who first described it in 1978. Though the two terms are often used interchangeably, DiGeorge sequence and VCFS are clinically distinct but overlapping conditions. The cause who are diagnosed as having VCFS. Associated conditions Aside from cleft palate, there are up to 184 other anomalies commonly associated with VCFS, including heart defects, unique facial characteristics (elongated face, almond-shaped eyes, small ears, wide nose), speech and feeding problems, middle ear infections, and learning difficulties. Not all anomalies are present in the child, nor is any one anomaly present in all cases. The features with which the child is born do not get progressively worse over time. Inherited?

49. Syndromes And Disorders Mitral Valve Prolapse Syndrome. Noonan Syndrome. Sakati Syndrome. shprintzen syndromeor VeloCardio-Facial Syndrome (VCFS). Turner Syndrome. Williams Syndrome. http://www.bamdad.com/sheri/disorder.html

50. Plastic And Reconstructive Surgery | Clefts | Velocardiofacial Syndrome Velocardiofacial syndrome (VCFS) also known as shprintzen syndrome, DiGeorge syndromeor 22q11 Deletion is a complex syndrome generally involving palatal http://www.ucsfhealth.org/childrens/medical_services/plassur/clefts/conditions/v

University of California, San Francisco About UCSF Quick Links... Admissions Appointments Billing Calendar Clinical Trials Clinics Conditions and Treatments Contact a Patient Contact Us Directions and Maps For Health Professionals Jobs Make A Donation Medical Dictionary Medical Tests News Patient Profiles Specialized Services UCSF Medical Center Volunteer Services Search Medical Services Plastic and Reconstructive Surgery Topics Clefts To Visit Us ... Other Resources Clefts Print Format Velocardiofacial Syndrome Signs and Symptoms Diagnosis Treatment Signs and Symptoms Velocardiofacial syndrome (VCFS) also known as Shprintzen syndrome, DiGeorge syndrome or 22q11 Deletion is a complex syndrome generally involving palatal (roof of the mouth) defects, heart defects, learning disabilities, depression of the immune system and distinct facial features. It has been associated with over 30 different characteristics. The severity of VCFS varies widely, and the syndrome is autosomal dominant, which means that an individual with the syndrome has a one in two chance of passing it on to their child. Last reviewed in June 2003 by experts at UCSF Children's Hospital.

51. Search Jablonski's Syndromes Database Syndrome DB Table of Contents epiphyseal dysplasia syndrome short stature-microcephaly-syndactyly-dysmorphicface-mental retardation syndrome shprintzen syndrome Shprintzen-Goldberg http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=Shprintzen syndrome&field

52. MUMS List Of Disorders - U - Z veinofgalen.co.uk; VeloCardio-Facial Syndrome (shprintzen syndrome)(40) **; Vena Cava Syndrome (Superior) (2); Venous Malformation http://www.netnet.net/mums/mum_u-z.htm

Return to MUMS Home Page MUMS: List of Disorders U - Z Number in parentheses indicates number of matches. indicates there is a support group which covers that diagnosis. UPJ Obstruction (4) Uhl Anomaly (Ventricular myocardium, aplasia of right) (1) Ulcerated Colitis (4)* Ulna Bone, absence, bilateral (arm bone) (3) * Ulna Bone, deficiency (arm bone) (4) * Undescended Testes (72) Undiagnosed (498) Unusual Facies Syndrome (5) Unverricht-Lundborg (Baltic Myoclonus) (1) Ureathra, Diverticulum (1) Ureter Reconstruction (5) Ureterostomy (5) Urethra Fistula (2) Urethra Valve Syndrome (6) Urethra, Diverticulum (1) Urogenital Sinus (2) Urorectal Septum Malformation Sequence (2) Urticaria Pigmentosa (9) Urticaria, Cold (1) Usher Syndrome Type II (1) * Uveitis (pars plantis -dots in vision) (3) * Uvulopalatopharyngoplasty (palate reconstruction) (2) VATER Syndrome or Vacterl Association (72) ** Vaccine Reaction to HIB Vaccine (6) * Vaccine Reaction to Measles Vaccine (9) * Vaccine Reaction to Pertussis (DPT) Vaccine (306) * Vaccine Reaction to Polio Vaccine (5) * Van Der Woude Syndrome (Cleft lip/palate pits) (1) Vaginal Cancer (2) * Vaginal Malformations (19) Vanishing Bile Duct Syndrome (1) Vanishing Twin Syndrome (5) Van Lohuizen Syndrome (Cutis Marmorata Telangiectasia) (7) * www.cmtc.nl

53. MUMS List Of Disorders - S Shortened Legs (1); shprintzen syndrome (VeloCardio-Facial Syndrome) (43) **;Shpintzen-Goldberg Syndrome (Craniosynostosis-Arachnodactyly-Hernia) (2); http://www.netnet.net/mums/mum_s.htm

Return to MUMS Home Page MUMS: List of Disorders S Number in parentheses indicates number of matches. indicates there is a support group which covers that diagnosis. Sacral Agenesis (12) * Saethre-Chotzen Syndrome (2) Sagittal Synostosis (7)* Sandhoff Disease (1) Sandifer's Syndrome (8) Sanfilippo Syndrome, Mucopolysaccharidosis (24) * Sarcoglycanopathy (Muscular Dystrophy) (1) Sarcoidosis (1) Sarcoma, Ewing's (6) * Scheie Syndrome (4)* Scheuermanns Disease (1) Schilder's Disease (1) Schimke Immuno Osseosis Dysplasia (1) Schinzel-Giedeon Syndrome (3)* Schizencephaly (39) * Schizophrenia (23) * Schonlein-Henoch Purpura (10)* Schwachman Syndrome (13) *** Schwachman-Diamond Syndrome (13) *** www.shwachmandiamondamerica.org www.shwachman-diamond.org Schwartz-Jampel Syndrome (1) deceased Scimitar Sacrum (1) Scimitar Syndrome (8) www.scimitarsyndrome.freeservers.com Sclerocornea (2) Scleroderma (8)*** Scleroderma, Linear Form (1)* Scoliosis (219) * Scoliosis after heart surgery (1) Scoliosis, Infantile (5) www.infantilescoliosis.com/

54. Department Of Human Genetics, School Of Medicine, Emory University : Ask The Gen Dr. Shprintzen named this group of features velocardio-facial (VCF) syndrome,but the syndrome was also referred to as shprintzen syndrome. http://server2k.genetics.emory.edu/ask/user/view_response.pl?resp=51&temp=3

55. CCDD: Family: Education: Descriptions Of Disorders a number of different names including the velocardiofacial (VCF) syndrome, DiGeorgesyndrome, conotruncal anomaly face (CTAF) syndrome and shprintzen syndrome. http://www.hopkinsmedicine.org/craniofacial/Education/Disorders.cfm?Source=Famil

56. Congress Autism-Europe Barcelona96. Proceedings. The diagnosis of velocardio-facial syndrome or shprintzen syndromewas made in two patients. Their intellectual level was mild http://www.autismo.com/scripts/articulo/smuestra.idc?n=26B

57. Velocardiofacial Syndrome [NIDCD Health Information] VCFS may also be known as shprintzen syndrome, DiGeorge syndrome, Craniofacialsyndrome or Conotruncal Anomaly Unusual Face Syndrome. Top. http://www.nidcd.nih.gov/health/voice/velocario.asp

Change text size: S M L Home ... Voice, Speech, and Language Velocardiofacial Syndrome On this page: What is velocardiofacial syndrome? What causes velocardiofacial syndrome? What are the features of velocardiofacial syndrome? How common is velocardiofacial syndrome? ... Where can I get additional information? What is velocardiofacial syndrome? Velocardiofacial syndrome (VCFS) is a disorder that has been associated with over thirty different features. (A disease or disorder that has more than one identifying feature or symptom is a syndrome.) The name velocardiofacial syndrome comes from the Latin words "velum" meaning palate, "cardia" meaning heart and "facies" having to do with the face. Not all of these identifying features are found in each child who is born with VCFS. The most common features are cleft palate (opening in the roof of the mouth), heart defects, characteristic facial appearance, minor learning problems and speech and feeding problems. Although VCFS is the most common syndrome associated with a cleft palate, it was not recognized until 1978, at which time Dr. Robert J. Shprintzen of the Center for Craniofacial Disorders at the Montefiore Medical Center in Bronx, New York, described 12 children with the disorder. Most or all of these first 12 children were born with a cleft palate, heart defects and similar faces. VCFS may also be known as Shprintzen syndrome, DiGeorge syndrome, Craniofacial syndrome or Conotruncal Anomaly Unusual Face Syndrome. Top What causes velocardiofacial syndrome?

58. UNSW Embryology-OMIM DIGEORGE SYNDROME This deletion may present with a variety of phenotypes shprintzen syndrome (192430);conotruncal anomaly face (or Takao syndrome); and isolated outflow tract http://anatomy.med.unsw.edu.au/cbl/embryo/OMIMfind/endocrine/OMIM-188400.htm

UNSW Embryology DEVELOPMENT OF THE ENDOCRINE SYSTEM Embryology Home Page DIGEORGE SYNDROME Select Entry from OMIM Online Mendelian Inheritance in Man (Internet Link) This page is for computers without external internet access. Back to UNSW Embryology-Kidney Notes List of OMIM search results *188400 DIGEORGE SYNDROME; DGS Alternative titles; symbols HYPOPLASIA OF THYMUS AND PARATHYROIDS THIRD AND FOURTH PHARYNGEAL POUCH SYNDROME DIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED; DGCR, INCLUDED SHPRINTZEN VCF SYNDROME, INCLUDED TAKAO VCF SYNDROME, INCLUDED CONOTRUNCAL ANOMALY FACE SYNDROME, INCLUDED VELOCARDIOFACIAL SYNDROME, INCLUDED CATCH22, INCLUDED TABLE OF CONTENTS DESCRIPTION NOMENCLATURE CLINICAL FEATURES BIOCHEMICAL FEATURES ... Database Links Gene Map Locus: Note: pressing the symbol will find the citations in MEDLINE whose text most closely matches the text of the preceding OMIM paragraph, using the Entrez MEDLINE neighboring function.

59. Velo-Cardial-Facial Syndrome The severity of the presentation varies widely among affected individuals. VCFS canalso be known as shprintzen syndrome, DiGeorge syndrome or 22q11 Deletion. http://dentistry.ucsf.edu/cranio/velocard.htm

What is velocardiofacial syndrome? Velocardiofacial syndrome (VCFS) is a complex syndrome generally involving palatal defects, heart defects, learning disabilities and distinct facial features. It has been associated with over thirty different characteristics. The name comes from Latin: "velum" meaning palate, "cardia" meaning heart and "facies" meaning face. The severity of the presentation varies widely among affected individuals. VCFS can also be known as Shprintzen syndrome, DiGeorge syndrome or 22q11 Deletion. VCFS is autosomal dominant meaning that a parent with the syndrome has a 1 in 2 chance of passing it on to their child. How is velocardiofacial syndrome treated? Because VCFS can present differently in different children, it is important that a knowledgeable team of specialists evaluate a child so that nothing is overlooked. The child should be seen shortly after birth by the nurse from the Craniofacial Center to establish adequate feeding and breathing. Swallowing problems in infancy are common in this syndrome. Within the first two months of life, the child should be seen for a full team evaluation. Genetic testing is available for VCFS.

60. Down Syndrome --  Encyclopædia Britannica , Velocardiofacial Syndrome National Institute on Deafness and Other CommunicationDisorders Information on shprintzen syndrome, caused by deletion of a http://www.britannica.com/eb/article?eu=31605&tocid=0&query=pendred's syndrome

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