Birth Defects and Genetic Diseases

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Birth Defects and Genetic Diseases
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Birth Defects and Genetic Disorders News

Cardiac@ (48)
Cardiovascular@ (6)
Metabolic@ (398)

Gene Therapy@ (72)
Genetic Testing and Counseling@ (25)
Genetics Education@ (17)
Human Genetics@ (229)

See also:

Provider Oriented

General

California DHS Genetic Disease Branch

Continuing with pregnancy after a diagnosis of lethal abnormality:
experience of five couples and recommendations for management
1996 British Medical Journal

Fetal medicine
1998 British Medical Journal

GeneClinics is a medical knowledge base relating genetic testing to the diagnosis, management, and genetic counseling of individuals and families with specific inherited disorders.

Genetic counseling - Wikipedia, the free encyclopedia From Wikipedia, the free encyclopedia. Jump to: navigation, search. Genetic counseling is the process by which patients or relatives, ...

Genetic Counselor's Toolbox perinatology.com

Genetics Online
Publishes the results of original research in genetics, biochemistry and molecular biology. Includes article abstracts. Full text requires subscription.

Genetic Analysis Software Rockefeller University

The Gene Letter

Information For Genetic Professionals University of Kansas Medical Center
International Birth Defects Information Systems
Nature Genetics
Publishes results of exceptional significance, originality and relevance to geneticists and the scientific community at large with research papers, ...
Online Mendelian Inheritance in Man
OTIS Organization of Teratology Information Services
Pediatric Database Description of pediatric conditions.
INTERNET ARCHIVE (Long website loading time)
Prenatal Screening and Diagnosis MatWeb Directory
Regional and State Genetics NetworksCDC
Reprotox Database of teratogens (fee).
Teratology Society

Patient Oriented

General

Birth defects
March of Dimes

Congenital Heart Defects
American American Heart Association

Genetics and Birth Defects
MedlinePlus

Genetics Home Reference - Your guide to understanding genetic...
Home Reference (GHR) provides free access to consumer-friendly information on medical genetics to patients and their family members,

Specific Conditions

Aarskog Syndrome (5)

Aase Syndrome (2)

Ablepharon-Macrostomia Syndrome (4)

Acoustic Neuroma@ (11)

Adie Syndrome@ (4)

Adrenal Hyperplasia@ (17)

Adrenoleukodystrophy@ (7)

Aicardi Syndrome@ (8)

Alagille Syndrome (6)

Albinism@ (11)

Alkaptonuria (5)

Alopecia Areata@ (14)

Alpha-1 Antitrypsin Deficiency (10)

Alstrom Syndrome@ (5)

Angelman Syndrome@ (15)

Apert Syndrome@ (9)

Arthrogryposis@ (88)

Ataxia@ (11)

Autism@ (626)

Bardet-Biedl Syndrome@ (6)

Barth Syndrome@ (4)

Batten (7)

Beckwith-Wiedemann Syndrome (9)

Canavan@ (4)

Celiac@ (40)

Cerebrocostomandibular Syndrome@ (2)

Charcot-Marie-Tooth Disease@ (5)

Cleidocranial Dysplasia@ (4)

Cockayne Syndrome@ (2)

Coffin Lowry Syndrome (4)

Congenital Pain Insensitivity@ (2)

Cornelia De Lange Syndrome@ (2)

Costello Syndrome (2)

Cowden Syndrome (3)

Craniofrontonasal Dysplasia (3)

Cri du Chat Syndrome@ (5)

Crigler-Najjar Syndrome (3)

Cystic Fibrosis (150)

Cystinosis@ (3)

DiGeorge Syndrome (4)

Down Syndrome (102)

Dubowitz Syndrome (3)

Dwarfism@ (21)

Ectodermal Dysplasia (6)

Ehlers-Danlos Syndrome@ (34)

Factor V Leiden@ (6)

Familial Dysautonomia@ (8)

Familial Erythromelalgia@ (4)

Familial Hypercholesterolemia (2)

Fanconi Anemia@ (15)

Fatty Oxidation (4)

Floating-Harbor Syndrome (4)

Fragile X Syndrome (14)

Friedreich Ataxia@ (4)

Galactosemia@ (4)

Gaucher's@ (14)

Glutaricaciduria (3)

Glycogen Storage Disease Type II@ (4)

Hailey-Hailey Disease (1)

Hallervorden-Spatz Syndrome@ (5)

Hemihypertrophy (3)

Hemochromatosis (18)

Hemophilia@ (25)

Hereditary Angioedema (5)

Hereditary Spastic Paraplegia (6)

Homocystinuria@ (3)

Huntington's@ (31)

Hydrocephalus@ (50)

Incontinentia Pigmenti (7)

Jacobsen Syndrome@ (2)

Joubert Syndrome (6)

Klinefelter Syndrome (12)

Klippel-Feil Syndrome@ (9)

Langer-Giedion Syndrome@ (2)

Laurence-Moon Syndrome (3)

Leigh's@ (4)

Lesch-Nyhan Syndrome (1)

Leukodystrophy@ (29)

Lissencephaly@ (5)

Lowe Syndrome (2)

Lymphedema@ (43)

Machado-Joseph (4)

Mannosidosis (2)

Marfan Syndrome@ (34)

McArdle's (1)

Meckel-Gruber Syndrome (4)

Menkes' Syndrome@ (9)

Mobius Syndrome (5)

Multiple Hereditary Exostoses@ (7)

Muscular Dystrophies@ (75)

Myotonic Dystrophy@ (3)

Nail Patella Syndrome (6)

Narcolepsy@ (28)

Neurofibromatosis@ (14)

Niemann-Pick@ (4)

Noonan Syndrome (8)

Opitz Syndrome (6)

Osteogenesis Imperfecta@ (17)

Pallister Killian Mosaic Syndrome (2)

Pallister-Hall Syndrome (4)

Phenylketonuria@ (6)

Polycystic Kidney@ (18)

Popliteal Pterygium Syndrome (2)

Porphyrias@ (17)

Prader-Willi Syndrome (10)

Progeria@ (9)

Propionic Acidemia (3)

Proteus Syndrome (3)

Prune Belly Syndrome (2)

Pseudoxanthoma Elasticum (3)

Refsum's@ (3)

Retinoblastoma@ (27)

Rett's Syndrome@ (23)

Robinow Syndrome (4)

Rubinstein-Taybi Syndrome@ (4)

Russell Silver Syndrome (2)

Sanfilippo Syndrome (5)

Schizencephaly (3)

Shwachman Syndrome (6)

Sickle Cell@ (19)

Smith Lemli Opitz Syndrome (3)

Smith-Magenis Syndrome (3)

Soto's Syndrome (5)

Spinal Muscular Atrophy@ (11)

Stickler's Syndrome@ (4)

Sturge-Weber Syndrome (3)

Tay-Sachs@ (4)

Thalassemia@ (18)

Thrombocytopenia Absent Radius Syndrome (3)

Tourette Syndrome@ (78)

Treacher Collins Syndrome@ (7)

Tuberous Sclerosis@ (15)

Turner Syndrome (10)

Tyrosinemia@ (3)

Urea Cycle (2)

Usher Syndrome (2)

VATER Syndrome@ (5)

Velo-Cardio-Facial Syndrome (4)

Von Hippel-Lindau (5)

Waardenburg Syndrome (2)

WAGR Syndrome@ (4)

Weaver Syndrome (2)

Williams Syndrome (9)

Wilson's Disease@ (11)

Xeroderma Pigmentosum (7)

Zellweger Syndrome (4)

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