Achromatopsia

Achromatopsia MedicineNet

Acidemias (Organic Acidemias)

What are Organic Acidemias? Organic Acidemia Association

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

Alagille Syndrome

Alagille Syndrome Genetics Home Reference

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 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

Bloom Syndrome Chicago Center for Genetic Disorders

Branchio-Oto-Renal (BOR) Syndrome

Hearing Loss: Branchio-Oto-Renal (BOR) Syndrome Hospital for Sick Children, Canada

Canavan Syndrome

What is Canavan Disease? Canavan Foundation

Cancer Genetics

Cancer Genetics Overview National Cancer Institute

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 Palate Nemours Foundation

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 Dislocation (Dysplasia) of the Hip (DDH) 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

Craniofacial Anomalies: 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

Does Diabetes Run in Your Family? CDC (also in Spanish)

DiGeorge Syndrome

DiGeorge Syndrome Mayo Clinic

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

What is 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 Mayo Clinic

Glaucoma

Are You at Risk for Glaucoma? Glaucoma Research Foundation (also in Arabic, Chinese, Croatian, Italian, Korean, Macedonian, Portugese, Russian, Spanish, Thai, Turkish, Vietnamese)

Growth Disorders

What is a Growth Disorder? Nemours Foundation

Hemochromatosis

Hemochromatosis Your Genes, Your Health

Hemoglobin C Disease

Hemoglobin C Disease Texas Department of State Health Services

Hemophilia/Bleeding Disorders

What is 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

Klinefelter Syndrome

Klinefelter Syndrome National Institute of Child Health and Development

Krabbe Disease

Krabbe Disease Information Page National Institute of Neurological Disorders & Stroke

Juvenile Retinoschisis (X Linked)

Retinoschisis Foundation Fighting Blindness

Leber Congenital Amaurosis

Leber Congenital Amaurosis Foundation Fighting Blindness

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

Age-Related Macular Degeneration American Optometric Association (also in Spanish)

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

Mucopolysaccharidoses Fact Sheet National Institute of Neurological Disorders and Stroke (also in Spanish)

Muscular Dystrophy

Muscular Dystropy Nemours Foundation

Neonatal Onset Multisystem Inflammatory Disease

Neonatal Onset Multisystem Inflammatory Disease Madisons Foundation

Neural Tube Defects

Neural Tube Defects: Spinal Bifida and Anencephaly New South Wales Genetics Program, Australia

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

Pompe Disease

Understanding Pompe Disease National Institute of Arthritis and Musculoskeletal and Skin Diseases

Prader-Willi Syndrome

Prader-Willi Syndrome National Institute of Child Health and Human Development

Progeria

Progeria Mayo Clinic

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

Skeletal Dysplasia 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 and Sandhoff Diseases March of Dimes

Thalassemia

Thalassemias Nemours Foundation

Treacher Collins Syndrome

Treacher Collins Syndrome Cleft Palate Foundation

Tuberous Sclerosis

Tuberous Sclerosis Fact Sheet National Institute of Neurological Disorders and Stroke (also in Spanish)

Turner's Syndrome

What is Turner's Syndrome? Turner's Syndrome Society of Canada

Tyrosinemia

Tyrosinemia Genetics Home Reference

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