Aarskog Syndrome
Aase Syndrome
Ablepharon-Macrostomia Syndrome
Alagille Syndrome
Alkaptonuria
Alpha-1 Antitrypsin Deficiency
Batten
Beckwith-Wiedemann Syndrome
Coffin Lowry Syndrome
Costello Syndrome
Cowden Syndrome
Craniofrontonasal Dysplasia
Crigler-Najjar Syndrome
Cystic Fibrosis
DiGeorge Syndrome
Down Syndrome
Dubowitz Syndrome
Ectodermal Dysplasia
Familial Hypercholesterolemia
Fatty Oxidation
Floating-Harbor Syndrome
Fragile X Syndrome
Glutaricaciduria
Hailey-Hailey Disease
Aase Syndrome
Ablepharon-Macrostomia Syndrome
Alagille Syndrome
Alkaptonuria
Alpha-1 Antitrypsin Deficiency
Batten
Beckwith-Wiedemann Syndrome
Coffin Lowry Syndrome
Costello Syndrome
Cowden Syndrome
Craniofrontonasal Dysplasia
Crigler-Najjar Syndrome
Cystic Fibrosis
DiGeorge Syndrome
Down Syndrome
Dubowitz Syndrome
Ectodermal Dysplasia
Familial Hypercholesterolemia
Fatty Oxidation
Floating-Harbor Syndrome
Fragile X Syndrome
Glutaricaciduria
Hailey-Hailey Disease
Hemihypertrophy
Hemochromatosis
Hereditary Angioedema
Hereditary Spastic Paraplegia
Incontinentia Pigmenti
Joubert Syndrome
Klinefelter Syndrome
Laurence-Moon Syndrome
Lesch-Nyhan Syndrome
Lowe Syndrome
Machado-Joseph
Mannosidosis
McArdle's
Meckel-Gruber Syndrome
Mobius Syndrome
Nail Patella Syndrome
Noonan Syndrome
Opitz Syndrome
Pallister-Hall Syndrome
Pallister Killian Mosaic Syndrome
Popliteal Pterygium Syndrome
Prader-Willi Syndrome
Propionic Acidemia
Proteus Syndrome
Hemochromatosis
Hereditary Angioedema
Hereditary Spastic Paraplegia
Incontinentia Pigmenti
Joubert Syndrome
Klinefelter Syndrome
Laurence-Moon Syndrome
Lesch-Nyhan Syndrome
Lowe Syndrome
Machado-Joseph
Mannosidosis
McArdle's
Meckel-Gruber Syndrome
Mobius Syndrome
Nail Patella Syndrome
Noonan Syndrome
Opitz Syndrome
Pallister-Hall Syndrome
Pallister Killian Mosaic Syndrome
Popliteal Pterygium Syndrome
Prader-Willi Syndrome
Propionic Acidemia
Proteus Syndrome
Prune Belly Syndrome
Pseudoxanthoma Elasticum
Robinow Syndrome
Russell Silver Syndrome
Sanfilippo Syndrome
Schizencephaly
Shwachman Syndrome
Smith-Magenis Syndrome
Smith Lemli Opitz Syndrome
Soto's Syndrome
Sturge-Weber Syndrome
Thrombocytopenia Absent Radius Syndrome
Turner Syndrome
Urea Cycle
Usher Syndrome
Velo-Cardio-Facial Syndrome
Von Hippel-Lindau
Waardenburg Syndrome
Weaver Syndrome
Williams Syndrome
Xeroderma Pigmentosum
Zellweger Syndrome
Pseudoxanthoma Elasticum
Robinow Syndrome
Russell Silver Syndrome
Sanfilippo Syndrome
Schizencephaly
Shwachman Syndrome
Smith-Magenis Syndrome
Smith Lemli Opitz Syndrome
Soto's Syndrome
Sturge-Weber Syndrome
Thrombocytopenia Absent Radius Syndrome
Turner Syndrome
Urea Cycle
Usher Syndrome
Velo-Cardio-Facial Syndrome
Von Hippel-Lindau
Waardenburg Syndrome
Weaver Syndrome
Williams Syndrome
Xeroderma Pigmentosum
Zellweger Syndrome
Sites:
Gene Clinics: Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients.Blepharophimosis Ptosis Epicanthus Inversus Syndrome: The BPEI (BPES) Family Network encourages people to get in touch with each other, share information and ask questions. Explanation of this rare eye disorder.
Dr. Greene's HouseCalls: A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease.
Genetic and Rare Conditions: Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z.
Genetic Disorders: The Links to Diet: Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy, homocystinuria, and cystic fibrosis.
IMMD Institute of Medical Molecular Diagnostics Ltd.: The IMMD is a genetic testing laboratory located in Germany. Provides genetic tests for hereditary breast cancer, various cardiovascular diseases or diseases with onset in childhood.
Primary Ciliary Dyskinesia: Information on a rare congenital disease.
The UDGD Spot: Resources and information for families of children with genetic disabilities or syndromes that are still awaiting a diagnosis.
Washington University in St Louis: Family resource for individuals with Papillon Lefevre, Haim-Munk Syndrome and Prepubertal Periodontis. Interested families may participate in a registry dedicated to learning about the natural history of these three conditions.
XLH Network: Patient support group for XLH, a genetic condition also known as X-Linked Hypophosphatemia, X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets.
Your Genes, Your Health: The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed.
