Knowledge: genetic disorders

Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome Acoustic Neuroma ∞ Adie Syndrome ∞ Adrenal Hyperplasia ∞ Adrenoleukodystrophy ∞ Aicardi Syndrome ∞ Alagille Syndrome Albinism ∞ Alfi's Syndrome Alkaptonuria Alopecia Areata ∞ Alpha-1 Antitrypsin Deficiency Alstrom Syndrome ∞ Angelman Syndrome ∞ Apert Syndrome ∞ Arthrogryposis ∞ Aspartylglucosaminuria ∞ Ataxia ∞ Autism ∞ Bardet-Biedl Syndrome ∞ Barth Syndrome ∞ Batten Disease Beckwith-Wiedemann Syndrome Bloom Syndrome Branchio-Oto-Renal Syndrome Canavan ∞ Cardiac ∞ Cardiovascular ∞ Celiac ∞ Cerebrocostomandibular Syndrome ∞ Charcot-Marie-Tooth Disease ∞ Choroideremia ∞ Cleidocranial Dysplasia ∞ Cockayne Syndrome ∞ Coffin Lowry Syndrome Cohen Syndrome Congenital Lactase Deficiency ∞ Congenital Pain Insensitivity ∞ Cornea Plana Congenita ∞ Cornelia De Lange Syndrome ∞ Costello Syndrome Cowden Syndrome Craniofrontonasal Dysplasia Cri du Chat Syndrome ∞ Crigler-Najjar Syndrome Currarino Syndrome Cystic Fibrosis Cystinosis ∞ DiGeorge Syndrome Down Syndrome Dubowitz Syndrome Dwarfism ∞ Ectodermal Dysplasia Ehlers-Danlos Syndrome ∞ Ellis-van Creveld Syndrome ∞ Epidermolysis Bullosa Factor V Leiden ∞ Familial Dysautonomia ∞ Familial Erythromelalgia ∞ Familial Hypercholesterolemia Familial Mediterranean Fever ∞ Fanconi Anemia ∞ Fatty Oxidation Floating-Harbor Syndrome Fragile X Syndrome Freeman-Sheldon Syndrome ∞ Friedreich Ataxia ∞ Fuchs' Dystrophy ∞ GRACILE Syndrome ∞ Galactosemia ∞ Gaucher's ∞ Gene Therapy ∞ Genetic Testing and Counseling ∞ Genetics Education ∞ Gilbert's Syndrome Glutaricaciduria Glycogen Storage Disease Type II ∞ Hailey-Hailey Disease Hallervorden-Spatz Syndrome ∞ Hemihypertrophy Hemochromatosis Hemophilia ∞ Hereditary Angioedema Hereditary Spastic Paraplegia Homocystinuria ∞ Human Genetics ∞ Huntington's ∞ Hydrocephalus ∞ Hydrolethalus Syndrome Imerslund-Grasbeck Syndrome ∞ Incontinentia Pigmenti Jacobsen Syndrome ∞ Joubert Syndrome Klinefelter Syndrome Klippel-Feil Syndrome ∞

Langer-Giedion Syndrome ∞ Larsen Syndrome ∞ Laurence-Moon Syndrome Leber's Congenital Amaurosis ∞ Leigh's ∞ Lesch-Nyhan Syndrome Leukodystrophy ∞ Lissencephaly ∞ Loeys-Dietz Syndrome Lowe Syndrome Lymphedema ∞ Lysinuric Protein Intolerance ∞ MEB Disease Machado-Joseph Mannosidosis Maple Syrup Urine Disease ∞ Marfan Syndrome ∞ McArdle's Meckel-Gruber Syndrome Menkes' Syndrome ∞ Metabolic ∞ Mobius Syndrome Mucolipidosis Type IV ∞ Mulibrey Nanism Multiple Hereditary Exostoses ∞ Muscular Dystrophies ∞ Musculoskeletal ∞ Myotonic Dystrophy ∞ Nail Patella Syndrome Narcolepsy ∞ Nasu-Hakola Disease Neurofibromatosis ∞ Neurological ∞ Niemann-Pick ∞ Noonan Syndrome Opitz Syndrome Organizations Osteogenesis Imperfecta ∞ PEHO Syndrome ∞ Pallister Killian Mosaic Syndrome Pallister-Hall Syndrome Personal Pages Phenylketonuria ∞ Polycystic Kidney ∞ Popliteal Pterygium Syndrome Porphyrias ∞ Prader-Willi Syndrome Progeria ∞ Propionic Acidemia Proteus Syndrome Prune Belly Syndrome Pseudoxanthoma Elasticum RAPADILINO Syndrome Refsum's ∞ Retinoblastoma ∞ Retinoschisis ∞ Rett's Syndrome ∞ Robinow Syndrome Rubinstein-Taybi Syndrome ∞ Russell Silver Syndrome Sanfilippo Syndrome Schizencephaly Shwachman Syndrome Sickle Cell ∞ Sirenomelia Smith Lemli Opitz Syndrome Smith-Magenis Syndrome Soto's Syndrome Spinal Muscular Atrophy ∞ Stickler's Syndrome ∞ Sturge-Weber Syndrome Support Groups ∞ Tay-Sachs ∞ Thalassemia ∞ Thrombocytopenia Absent Radius Syndrome Tourette Syndrome ∞ Treacher Collins Syndrome ∞ Trichothiodystrophy Tuberous Sclerosis ∞ Turner Syndrome Tyrosinemia ∞ Unverricht-Lundborg Disease ∞ Urea Cycle Urological ∞ Usher Syndrome VATER Syndrome ∞ Velo-Cardio-Facial Syndrome Von Hippel-Lindau WAGR Syndrome ∞ Waardenburg Syndrome Weaver Syndrome Williams Syndrome Wilson's Disease ∞ Wolf-Hirschhorn Syndrome Xeroderma Pigmentosum Zellweger Syndrome

See Also:

• health → conditions and diseases → congenital anomalies
• health → conditions and diseases → rare disorders

Links

Primary Ciliary Dyskinesia 
http://www.p-c-d.org/en/

Information on a rare congenital disease.

Gene Clinics 
http://www.geneclinics.org

Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients.

Genetic and Rare Conditions 
http://www.kumc.edu/gec/support/

Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z.

XLH Network 
http://www.xlhnetwork.org

Patient support group for XLH, a genetic condition also known as X-Linked Hypophosphatemia, X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets.

Genetic Disorders: The Links to Diet 
http://www.ctds.info/genetic_disorders.html

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.

Your Genes, Your Health 
http://www.ygyh.org

The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed.

Blepharophimosis Ptosis Epicanthus Inversus Syndrome 
http://freespace.virgin.net/andy.bowles/

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.

IMMD Institute of Medical Molecular Diagnostics Ltd. 
http://www.immd.de/

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.

The Center For Jewish Genetics Disorders 
http://www.jewishgeneticscenter.org/

A critical effort to provide public and professional education for many of the identified Jewish genetic disorders. Find info on screening and counseling, advocacy, events and community resources.

New Scientist: Heroin Addiction Gene Identified and Blocked 
http://www.newscientist.com/article.ns?id=dn7445

Scientists have not only identified a critical gene involved in heroin addiction relapse, but they have also successfully blocked it, eliminating cravings for the drug.

A3243G 
http://www.a3243g.com/

Explains a gene defect of mitochondrial DNA which causes several diseases, including maternally inherited diabetes with deafness. Features a newsletter, patient forum and definitions.

Information on Trisomy 13 
http://www.drgreene.org/body.cfm?id=21&action=detail&ref=614

Discusses medical information on this chromosome abnormality, including the doctor's personal experience with this rare disease.

What malformation did El Greco paint? 
http://www.jdawiseman.com/papers/el-greco/el-greco-dysmorphology.html

El Greco’s faces are modelled on a child with a distinctive malformation. But what condition is it?

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