Updated: March 31, 2008
Achromatopsia
Achromatopsia MedicineNet
Adrenal Hypoplasia Congenita
X-Linked Adrenal Hypoplasia Congenita Genetics Home Reference
Adrenoleukodystrophy
Adrenoleukodystrophy Information Page National Institute of Neurological Disorders and Stroke
Aicardi Syndrome
Aicardi Syndrome Information Page National Institute of Neurological Disorders and Stroke
Albinism/Hypopigmentation
What is Albinism? National Organization for Albinism and Hypopigmentation (also in Spanish)
Alexander Disease
Alexander Disease Information Page National Institute of Neurological Disorders and Stroke
Alpers' Disease
Alpers' Disease Information Page National Institute of Neurological Disorders and Stroke
Alpha-1 Antitrypsin Deficiency
Alpha-1 Antitrypsin Deficiency American Liver Foundation
Alzheimer's Disease
What is Alzheimer's? Alzheimer's Association
Amblyopia
Amblyopia (Lazy Eye) American Optometric Association (AOA)
Angelman Syndrome
Angelman Syndrome Information Page National Institute of Neurological Disorders and Stroke
Anencephaly
Anencephaly Information Page National Institute of Neurological Disorders and Stroke
Aniridia
What is Aniridia? The Aniridia Network
Anophthalmia
Anopthalmia Movements Online
Ataxia Telangiectasia
Ataxia Telangiectasia Information Page National Institute of Neurological Disorders and Stroke
Autism
Autism and Autism Spectrum Disorders (ASDs) National Institute of Child Health and Human Development
Bardet-Biedl Syndrome
Bardet-Biedl Syndrome Foundation Fighting Blindness
Barth Syndrome
Overview Barth Syndrome Foundation
Batten Disease
Batten Disease Information Page National Institute of Neurological Disorders and Stroke
Best's Disease
Best Disease Foundation Fighting Blindness
Bipolar Disorder
Bipolar Disorder American Academy of Family Physicians (also in Spanish)
Bloom Syndrome
Diseases: Bloom's Syndrome Mount Sinai School of Medicine, New York NY
Branchio-Oto-Renal (BOR) Syndrome
Branchio-Oto-Renal (BOR) Syndrome Boys Town National Research Hospital
Canavan Syndrome
What is Canavan Disease? Canavan Foundation
Cancer Genetics
Do You Have Cancer in Your Family? Pacific Northwest Regional Genetics Group 
Carnitine Deficiencies
Carnitine Deficiency Merck Manual
Cerebral Palsy
Cerebral Palsy National Dissemination Center for Children with Disabilities (also in Spanish)
Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease Information Page National Institute of Neurological Disorders and Stroke
Cleft Lip/Cleft Palate
Cleft Lip and Cleft Palate American Academy of Family Physicians (also in Spanish)
Coffin Lowry Syndrome
Coffin Lowry Syndrome Information Page National Institute of Neurological Disorders and Stroke
Coloboma
Coloboma Contact a Family, UK
Color Blindness
Frequently Asked Questions About Color Blindness Prevent Blindness America
Congenital Heart Defects
Congenital Heart Defects March of Dimes (also in Spanish)
Congenital Hip Dysplasia (Dislocation)
Developmental Dysplasia of the Hip American Academy of Orthopaedic Surgeons
Connective Tissue Disorders
What Are Heritable Disorders of Connective Tissue? National Institute of Arthritis and Musculoskeletal and Skin Diseases 
Corneal Dystrophy
Fuch's Corneal Dystrophy St. Luke's Eye Cataract & Laser Institute
Cornelia de Lange Syndrome
Cornelia de Lange Syndrome University of California Davis Children's Hospital
Cystic Fibrosis
Cystic Fibrosis National Library of Medicine (also in Spanish) 
Cystinosis
Cystinosis Genetics Home Reference
Developmental Disabilities
Cockayne Syndrome Genetics Home Reference
Diabetes
What is Diabetes? National Center for Farmworker Health (also in Spanish)
Down Syndrome
Down Syndrome Facts National Association for Down Syndrome (also in Spanish)
Ehlers-Danlos Syndrome
What is EDS? Ehlers-Danlos National Foundation
Epidermolysis Bullosa
About Epidermolysis Bullosa DebRA International
Familial Dysautonomia
What is Familial Dysautonomia Dysautonomia Foundation
Familial Mediterranean Fever
Familial Mediterranean Fever Mayo Clinic
Fragile X Syndrome
Fragile X Syndrome Your Genes, Your Health
G6PD (Glucose-6-Phosphate Dehydrogenase) Deficiency Anemia
A Note for Parents G6PD New South Wales Department of Health (also in Arabic, Greek, Italian, Turkish, Vietnamese)
Galactosemia
Galactosemia Handbook: A Guide for Parents Texas Department of State Health Services (also in Spanish)
Gaucher Disease
Gaucher Disease Information Page National Institute of Neurological Disorders and Stroke
Gilbert's Syndrome
Gilbert's Syndrome Children's Liver Alliance
Glaucoma
Are You at Risk for Glaucoma? New South Wales Department of Health (also in Arabic, Chinese, Croatian, Italian, Korean, Macedonian, Portugese, Russian, Spanish, Thai, Turkish, Vietnamese)
Hemochromatosis
Hemochromatosis Your Genes, Your Health
Hemoglobin C Disease
Hemoglobin C Disease Texas Department of State Health Services
Hemophilia/Bleeding Disorders
Hemophilia National Heart, Lung, and Blood Institute
Hirschsprung's Disease
What I Need to Know About Hirschsprung's Disease National Institute of Diabetes and Digestive and Kidney Diseases
Homocystinuria
What is Homocystinuria? Michigan Department of Community Health
Huntington's Disease
Huntington's Disease Family Caregiver Alliance
Hurler Syndrome
Mucopolysaccharidoses Information Page National Institute of Neurological Disorders and Stroke
Juvenile Retinoschisis (X Linked)
Juvenile Retinoschisis (X Linked) Prevent Blindness America
Klinefelter Syndrome
Klinefelter Syndrome National Institute of Child Health and Development
Krabbe Disease
Krabbe Disease Information Page
National Institute of Neurological Disorders & Stroke
Leber Congenital Amaurosis
Leber Congenital Amaurosis Prevent Blindness America
Leukodystrophies
Leukodystrophy Information Page
National Institute on Neurological Disorders and Stroke
Lipid Storage Diseases
Lipid Storage Diseases Fact Sheet National Institute of Neurological Disorders and Stroke
Long Q-T Syndrome
Long Q-T Syndrome Texas Heart Institute (also in Spanish)
Macular Degeneration
Macular Degeneration American Optometric Association
Marfan Syndrome
What is Marfan Syndrome? National Institute of Arthritis and Musculoskeletal and Skin Diseases (also in Spanish)
Menkes Disease
Menkes Disease Information Page National Institute of Neurological Disorders and Stroke
Metabolic Disorders
Hereditary Metabolic Disorders Merck Manual, Home Edition
Microphthalmus
Microphthalmus Texas School for the Visually Impaired
Mitochondrial Disease
Mitochondrial Myopathies Information Page National Institute of Neurological Disorders and Stroke
Mucolipidoses
Mucolipidoses Fact Sheet National Institute of Neurological Disorders and Stroke
Mucopolysaccharide Disorders
MPS Disorder Fact Sheet National MPS Society
Muscular Dystrophy
Muscular Dystropy Nemours Foundation
Neonatal Onset Multisystem Inflammatory Disease
Neonatal Onset Multisystem Inflammatory Disease Madisons Foundation
Neural Tube Defects
Preventing Neural Tube Defects, for Couples at Increased Risk Pacific Northwest Regional Genetics Group (also in Russian, Spanish, Vietnamese)
Neurofibromatosis
Neurofibromatosis Fact Sheet National Institute of Neurological Disorders and Stroke
Niemann-Pick Disease
Niemann-Pick Disease Information Page National Institute of Neurological Disorders and Stroke
Noonan Syndrome
Noonan Syndrome Genetics Home Reference
Optic Atrophy
Microphthalmus Texas School for the Visually Impaired
Osteogenesis Imperfecta
Fast Facts on Osteogenesis Imperfecta OI Foundation
Phenylketonuria (PKU)
What is Phenylkentonuria? Texas Department of State Health Services (also in Spanish)
Polycystic Kidney Disease
Polycystic Kidney Disease National Institute of Diabetes and Digestive and Kidney Diseases
Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum Genetics Home Reference
Ptosis
Ptosis: Eyelids That Droop American Society of Ophthalmic Plastic and Reconstructive Surgery
Rentinitis Pigmentosa
Retinitis Pigmentosa St. Luke's Cataract & Laser Institute, Tarpon Springs FL
Schizophrenia
Schizophrenia National Institute of Mental Health (also in Spanish)
Severe Combined Immunodeficiency (SCID)
Severe Combined Immunodeficiency Nemours Foundation
Sickle Cell Anemia
What Is Sickle Cell Anemia? National Heart Lung and Blood Institute
Skeletal Dysplasias
Short Stature Syndromes: Skeletal Dysplasias EMedicine.com
Smith-Magenis Syndrome
Smith-Magenis Syndrome Genetics Home Reference
Spherocytosis
Hereditary Spherocytosis Texas Children's Cancer Center and Hematology Service
Spina Bifida
Spina Bifida National Information Center for Children and Youth with Disabilities (also in Spanish)
Spinocerebellar Ataxia
Ataxias and Cerebellar/Spinocerebellar Degeneration Information Page National Institute of Neurological Disorders and Stroke
Stickler Syndrome
Stickler Syndrome Genetics Home Reference
Tay-Sachs Disease
Tay-Sachs Disease March of Dimes
Thalassemia
Thalassemia Nemours Foundation
Treacher Collins Syndrome
Treacher Collins Syndrome Cleft Palate Foundation
Tuberous Sclerosis
Questions and Answers Tuberous Sclerosis Alliance
Turner's Syndrome
What is Turner's Syndrome? Turner's Syndrome Society of Canada
Urea Cycle Disorder
What is a Urea Cycle Disorder? National Urea Cycles Disorder Foundation
Usher's Syndrome
Usher Syndrome National Institute on Deafness and Other Communication Disorders
Velocardiofacial Syndrome
Velocardiofacial Syndrome National Institute on Deafness and Other Communication Disorders
von Hippel-Lindau Disease
Von Hippel-Lindau Disease (VHL) Information Page National Institute on Neurological Disorders and Stroke
Werner Syndrome
Werner Sydrome Genes and Diseases
Williams Syndrome
Williams Syndrome Information Page National Institute of Neurological Disorders and Stroke
Xeroderma Pigmentosum
Understanding Xeroderma Pigmentosum Warren Grant Magnuson Clinical Center, National Institutes of Health
XXX Syndrome
Triple X Syndrome Merck Manual, Home Edition
XYY Syndrome
XYY Syndrome Merck Manual, Home Edition
