Aarskog Syndrome
No sub-categories 3 Sites Aase Syndrome
No sub-categories 3 Sites Ablepharon-Macrostomia Syndrome
No sub-categories 4 Sites Alagille Syndrome
No sub-categories 5 Sites Alfi's Syndrome
No sub-categories 2 Sites Barth Syndrome
No sub-categories 3 Sites Beckwith-Wiedemann Syndrome
Support Groups 4 Sites Bloom Syndrome
No sub-categories 4 Sites Cohen Syndrome
No sub-categories 2 Sites Costello Syndrome
No sub-categories 3 Sites Cystic Fibrosis
Camps, Centers, Conferences, Fundraising, ... 66 Sites DiGeorge Syndrome
No sub-categories 2 Sites Down Syndrome
Nutrition, Organizations, Personal Pages, ... 76 Sites Dubowitz Syndrome
No sub-categories 3 Sites Floating-Harbor Syndrome
No sub-categories 2 Sites Fragile X Syndrome
No sub-categories 10 Sites Hereditary Spastic Paraplegia
No sub-categories 6 Sites Hutchinson-Gilford Progeria Syndrome
No sub-categories 4 Sites Hydrolethalus Syndrome
No sub-categories 1 Sites Langer-Giedion Syndrome
No sub-categories 3 Sites Laurence-Moon Syndrome
No sub-categories 3 Sites Loeys-Dietz Syndrome
No sub-categories 6 Sites Lowe Syndrome
No sub-categories 3 Sites

MDP Syndrome
No sub-categories 3 Sites Nasu-Hakola Disease
No sub-categories 2 Sites Noonan Syndrome
No sub-categories 5 Sites Opitz Syndrome
No sub-categories 2 Sites Organizations
No sub-categories 8 Sites Pallister-Hall Syndrome
No sub-categories 4 Sites Pallister Killian Mosaic Syndrome
No sub-categories 3 Sites Personal Pages
No sub-categories 8 Sites Pitt-Hopkins
No sub-categories 2 Sites Popliteal Pterygium Syndrome
No sub-categories 1 Sites Prader-Willi Syndrome
No sub-categories 11 Sites Progeria
No sub-categories 8 Sites Proteus Syndrome
No sub-categories 5 Sites Rubinstein-Taybi Syndrome
No sub-categories 8 Sites Shwachman Syndrome
No sub-categories 8 Sites Smith-Magenis Syndrome
No sub-categories 4 Sites Sturge-Weber Syndrome
No sub-categories 4 Sites Triploidy
No sub-categories 1 Sites VACTERL Association
Personal Pages 9 Sites Von Hippel-Lindau
No sub-categories 2 Sites Waardenburg Syndrome
No sub-categories 2 Sites Weaver Syndrome
No sub-categories 2 Sites

Rare Disorders
Health : Conditions and Diseases 7 Sites Congenital Anomalies
Health : Conditions and Diseases 69 Sites Alopecia Areata
Conditions and Diseases : Skin Disorders : Hair Loss 7 Sites Mucolipidosis
Conditions and Diseases : Nutritional and Metabolic Disorders : Inherited 3 Sites Retinoschisis
Conditions and Diseases : Eye Disorders : Retina 5 Sites Klinefelter Syndrome
Conditions and Diseases : Sex-Development Disorders : Intersex 7 Sites Mucolipidosis Type IV
Neurological Disorders : Brain Diseases : Metabolic 3 Sites Menkes' Syndrome
Conditions and Diseases : Nutritional and Metabolic Disorders : Vitamins and Minerals 5 Sites WAGR Syndrome
Conditions and Diseases : Neurological Disorders : Chromosomal 6 Sites Rett Syndrome
Health : Conditions and Diseases : Neurological Disorders 9 Sites Aicardi Syndrome
Conditions and Diseases : Neurological Disorders : Brain Diseases 7 Sites Adie Syndrome
Conditions and Diseases : Neurological Disorders : Autonomic Nervous System 3 Sites Narcolepsy
Health : Conditions and Diseases : Sleep Disorders 11 Sites Osteopetrosis
Health : Conditions and Diseases : Musculoskeletal Disorders 6 Sites Aspartylglucosaminuria
Conditions and Diseases : Nutritional and Metabolic Disorders : Inherited 1 Sites Apert Syndrome
Conditions and Diseases : Congenital Anomalies : Craniofacial Anomalies 8 Sites Factor V Leiden
Conditions and Diseases : Blood Disorders : Coagulation Disorders 2 Sites Congenital Pain Insensitivity
Conditions and Diseases : Neurological Disorders : Peripheral Nervous System 1 Sites Glycogen Storage Disease Type II
Conditions and Diseases : Neurological Disorders : Brain Diseases 4 Sites Hemophilia
Health : Conditions and Diseases : Blood Disorders 17 Sites Hallervorden-Spatz Syndrome
Neurological Disorders : Brain Diseases : Basal Ganglia 2 Sites Cockayne Syndrome
Conditions and Diseases : Neurological Disorders : Neurodegenerative Diseases 1 Sites Congenital Anomalies
Health : Conditions and Diseases : Neurological Disorders 76 Sites Congenital Lactase Deficiency
Digestive System Disorders : Intestinal : Lactose Intolerance 1 Sites Refsum's
Conditions and Diseases : Nutritional and Metabolic Disorders : Cholesterol and Other Fats 3 Sites GRACILE Syndrome
Conditions and Diseases : Nutritional and Metabolic Disorders : Inherited 3 Sites Cri du Chat Syndrome
Conditions and Diseases : Neurological Disorders : Chromosomal 3 Sites Maple Syrup Urine Disease
Conditions and Diseases : Nutritional and Metabolic Disorders : Inherited 9 Sites Stickler's Syndrome
Conditions and Diseases : Congenital Anomalies : Craniofacial Anomalies 8 Sites Congenital
Conditions and Diseases : Cardiovascular Disorders : Heart Disease 22 Sites Cleidocranial Dysplasia
Health : Conditions and Diseases : Musculoskeletal Disorders 4 Sites Cornelia De Lange Syndrome
Conditions and Diseases : Neurological Disorders : Chromosomal 6 Sites Congenital Adrenal Hyperplasia
Conditions and Diseases : Sex-Development Disorders : Intersex 3 Sites Friedreich's Ataxia
Neurological Disorders : Spinal Cord : Spinocerebellar Degenerations 8 Sites Retinoblastoma
Conditions and Diseases : Cancer : Eye 17 Sites Fanconi
Conditions and Diseases : Blood Disorders : Anemia 6 Sites Arthrogryposis
Conditions and Diseases : Musculoskeletal Disorders : Congenital Anomalies 22 Sites Ataxia
Health : Conditions and Diseases : Neurological Disorders 7 Sites Muscular Dystrophies
Conditions and Diseases : Neurological Disorders : Muscle Diseases 43 Sites Cerebrocostomandibular Syndrome
Conditions and Diseases : Congenital Anomalies : Craniofacial Anomalies 2 Sites Spinal Muscular Atrophy
Conditions and Diseases : Neurological Disorders : Muscle Diseases 9 Sites Tourette Syndrome
Health : Conditions and Diseases : Neurological Disorders 31 Sites Leber's Congenital Amaurosis
Conditions and Diseases : Eye Disorders : Retina 4 Sites Charcot-Marie-Tooth Disease
Conditions and Diseases : Neurological Disorders : Peripheral Nervous System 7 Sites Dwarfism
Conditions and Diseases : Musculoskeletal Disorders : Congenital Anomalies 21 Sites Adrenoleukodystrophy
Neurological Disorders : Demyelinating Diseases : Leukodystrophy 3 Sites Familial Dysautonomia
Conditions and Diseases : Neurological Disorders : Autonomic Nervous System 3 Sites Congenital Anomalies
Health : Conditions and Diseases : Musculoskeletal Disorders 134 Sites Ehlers-Danlos Syndrome
Conditions and Diseases : Musculoskeletal Disorders : Connective Tissue 12 Sites Canavan
Neurological Disorders : Demyelinating Diseases : Leukodystrophy 3 Sites Tyrosinemia
Conditions and Diseases : Nutritional and Metabolic Disorders : Inherited 2 Sites Gaucher's
Conditions and Diseases : Nutritional and Metabolic Disorders : Cholesterol and Other Fats 5 Sites Wilson's Disease
Conditions and Diseases : Nutritional and Metabolic Disorders : Vitamins and Minerals 8 Sites Congenital Anomalies
Health : Conditions and Diseases : Cardiovascular Disorders 5 Sites Imerslund-Grasbeck Syndrome
Conditions and Diseases : Nutritional and Metabolic Disorders : Vitamins and Minerals 2 Sites Cystinosis
Conditions and Diseases : Nutritional and Metabolic Disorders : Inherited 5 Sites Celiac Disease
Conditions and Diseases : Digestive System Disorders : Intestinal 36 Sites Lymphedema
Conditions and Diseases : Cardiovascular Disorders : Vascular Disorders 21 Sites Congenital Anomalies
Health : Conditions and Diseases : Genitourinary Disorders 9 Sites Klippel-Feil Syndrome
Conditions and Diseases : Musculoskeletal Disorders : Congenital Anomalies 6 Sites Galactosemia
Neurological Disorders : Brain Diseases : Metabolic 5 Sites Treacher Collins Syndrome
Conditions and Diseases : Congenital Anomalies : Craniofacial Anomalies 6 Sites Tuberous Sclerosis
Conditions and Diseases : Neurological Disorders : Neurodegenerative Diseases 10 Sites Myotonic Dystrophy
Conditions and Diseases : Neurological Disorders : Muscle Diseases 1 Sites Nutritional and Metabolic Disorders
Health : Conditions and Diseases 377 Sites Homocystinuria
Neurological Disorders : Brain Diseases : Metabolic 4 Sites Leigh's
Neurological Disorders : Brain Diseases : Metabolic 3 Sites Ellis-van Creveld Syndrome
Musculoskeletal Disorders : Congenital Anomalies : Dwarfism 1 Sites Unverricht-Lundborg Disease
Neurological Disorders : Epilepsy : Progressive Myoclonic 1 Sites Angelman Syndrome
Conditions and Diseases : Neurological Disorders : Movement Disorders 14 Sites Acoustic Neuroma
Conditions and Diseases : Neurological Disorders : Neoplasms 12 Sites Lysinuric Protein Intolerance
Conditions and Diseases : Nutritional and Metabolic Disorders : Inherited 4 Sites Choroideremia
Conditions and Diseases : Eye Disorders : Retina 3 Sites Thalassemia
Conditions and Diseases : Blood Disorders : Anemia 15 Sites Multiple Hereditary Exostoses
Conditions and Diseases : Musculoskeletal Disorders : Congenital Anomalies 4 Sites Polycystic Kidney
Conditions and Diseases : Genitourinary Disorders : Kidney 8 Sites

Albinism
Health : Conditions and Diseases : Skin Disorders 6 Sites Leukodystrophy
Conditions and Diseases : Neurological Disorders : Demyelinating Diseases 17 Sites Marfan Syndrome
Conditions and Diseases : Musculoskeletal Disorders : Connective Tissue 18 Sites Osteogenesis Imperfecta
Conditions and Diseases : Musculoskeletal Disorders : Congenital Anomalies 11 Sites Lissencephaly
Conditions and Diseases : Neurological Disorders : Congenital Anomalies 2 Sites Larsen Syndrome
Conditions and Diseases : Musculoskeletal Disorders : Congenital Anomalies 1 Sites PEHO Syndrome
Conditions and Diseases : Neurological Disorders : Brain Diseases 5 Sites Niemann-Pick
Conditions and Diseases : Nutritional and Metabolic Disorders : Cholesterol and Other Fats 10 Sites Porphyrias
Conditions and Diseases : Nutritional and Metabolic Disorders : Inherited 9 Sites Oral-facial-digital Syndrome
Conditions and Diseases : Congenital Anomalies : Craniofacial Anomalies 2 Sites Erythromelalgia
Conditions and Diseases : Cardiovascular Disorders : Vascular Disorders 3 Sites Sickle Cell
Health : Conditions and Diseases : Blood Disorders 10 Sites Jacobsen Syndrome
Health : Conditions and Diseases : Congenital Anomalies 3 Sites Hydrocephalus
Health : Conditions and Diseases : Neurological Disorders 25 Sites Turner Syndrome
Health : Conditions and Diseases : Sex-Development Disorders 8 Sites Huntington's Disease
Health : Conditions and Diseases : Neurological Disorders 16 Sites Fuchs' Dystrophy
Conditions and Diseases : Eye Disorders : Cornea 4 Sites Neurofibromatosis
Conditions and Diseases : Neurological Disorders : Peripheral Nervous System 12 Sites Tay-Sachs
Conditions and Diseases : Nutritional and Metabolic Disorders : Cholesterol and Other Fats 5 Sites Autism Spectrum
Mental Health : Disorders : Neurodevelopmental 311 Sites Freeman-Sheldon Syndrome
Musculoskeletal Disorders : Congenital Anomalies : Arthrogryposis 3 Sites Bardet-Biedl Syndrome
Conditions and Diseases : Neurological Disorders : Brain Diseases 3 Sites Raine Syndrome
Conditions and Diseases : Congenital Anomalies : Craniofacial Anomalies 3 Sites Familial Mediterranean Fever
Health : Conditions and Diseases : Immune Disorders 4 Sites Phenylketonuria
Conditions and Diseases : Nutritional and Metabolic Disorders : Inherited 4 Sites Cornea Plana Congenita
Conditions and Diseases : Eye Disorders : Cornea 1 Sites Familial Adenomatous Polyposis
Conditions and Diseases : Digestive System Disorders : Intestinal 6 Sites Medium Chain Acyl Dehydrogenase Deficiency
Conditions and Diseases : Nutritional and Metabolic Disorders : Cholesterol and Other Fats 6 Sites Alkaptonuria
Conditions and Diseases : Nutritional and Metabolic Disorders : Inherited 6 Sites Alpha-1 Antitrypsin Deficiency
Conditions and Diseases : Nutritional and Metabolic Disorders : Inherited 6 Sites Crigler-Najjar Syndrome
Conditions and Diseases : Nutritional and Metabolic Disorders : Inherited 5 Sites Familial Hypercholesterolemia
Nutritional and Metabolic Disorders : Cholesterol and Other Fats : Hypercholesterolemia 1 Sites Fatty Oxidation
Conditions and Diseases : Nutritional and Metabolic Disorders : Cholesterol and Other Fats 2 Sites Gilbert's Syndrome
Conditions and Diseases : Nutritional and Metabolic Disorders : Inherited 9 Sites Glutaricaciduria
Conditions and Diseases : Nutritional and Metabolic Disorders : Inherited 3 Sites Lesch-Nyhan Syndrome
Conditions and Diseases : Nutritional and Metabolic Disorders : Inherited 2 Sites Mannosidosis
Conditions and Diseases : Nutritional and Metabolic Disorders : Inherited 2 Sites McArdle's
Conditions and Diseases : Nutritional and Metabolic Disorders : Inherited 1 Sites Propionic Acidemia
Conditions and Diseases : Nutritional and Metabolic Disorders : Inherited 4 Sites Sanfilippo Syndrome
Conditions and Diseases : Nutritional and Metabolic Disorders : Inherited 5 Sites Smith Lemli Opitz Syndrome
Conditions and Diseases : Nutritional and Metabolic Disorders : Inherited 4 Sites Urea Cycle
Health : Conditions and Diseases : Nutritional and Metabolic Disorders 1 Sites Zellweger Syndrome
Conditions and Diseases : Nutritional and Metabolic Disorders : Inherited 5 Sites Batten Disease
Conditions and Diseases : Neurological Disorders : Neurodegenerative Diseases 7 Sites Coffin Lowry Syndrome
Health : Conditions and Diseases : Neurological Disorders 4 Sites Joubert Syndrome
Conditions and Diseases : Neurological Disorders : Brain Diseases 3 Sites Mobius Syndrome
Health : Conditions and Diseases : Neurological Disorders 2 Sites Williams Syndrome
Conditions and Diseases : Neurological Disorders : Chromosomal 12 Sites Wolf-Hirschhorn Syndrome
Conditions and Diseases : Neurological Disorders : Chromosomal 5 Sites Usher Syndrome
Conditions and Diseases : Communication Disorders : Deafblindness 7 Sites Branchio-Oto-Renal Syndrome
Conditions and Diseases : Genitourinary Disorders : Kidney 4 Sites Prune Belly Syndrome
Health : Conditions and Diseases : Genitourinary Disorders 2 Sites Xeroderma Pigmentosum
Health : Conditions and Diseases : Skin Disorders 8 Sites Trichothiodystrophy
Health : Conditions and Diseases : Skin Disorders 6 Sites Pseudoxanthoma Elasticum
Health : Conditions and Diseases : Skin Disorders 4 Sites Hereditary Angioedema
Health : Conditions and Diseases : Skin Disorders 3 Sites Hailey-Hailey Disease
Health : Conditions and Diseases : Skin Disorders 3 Sites Epidermolysis Bullosa
Health : Conditions and Diseases : Skin Disorders 11 Sites Ectodermal Dysplasia
Health : Conditions and Diseases : Skin Disorders 6 Sites Brugada Syndrome
Conditions and Diseases : Cardiovascular Disorders : Heart Disease 3 Sites Nail Patella Syndrome
Health : Conditions and Diseases : Skin Disorders 7 Sites RAPADILINO Syndrome
Health : Conditions and Diseases : Musculoskeletal Disorders 4 Sites Thrombocytopenia Absent Radius Syndrome
Health : Conditions and Diseases : Musculoskeletal Disorders 3 Sites Schizencephaly
Conditions and Diseases : Neurological Disorders : Brain Diseases 3 Sites Incontinentia Pigmenti
Health : Conditions and Diseases : Skin Disorders 6 Sites Craniofrontonasal Dysplasia
Conditions and Diseases : Musculoskeletal Disorders : Congenital Anomalies 3 Sites Currarino Syndrome
Conditions and Diseases : Musculoskeletal Disorders : Congenital Anomalies 2 Sites Machado-Joseph
Conditions and Diseases : Neurological Disorders : Brain Diseases 4 Sites MEB Disease
Conditions and Diseases : Neurological Disorders : Muscle Diseases 3 Sites Craniofrontonasal Dysplasia
Health : Conditions and Diseases : Musculoskeletal Disorders 1 Sites Hemochromatosis
Health : Conditions and Diseases : Blood Disorders 16 Sites Sturge-Weber Syndrome
Conditions and Diseases : Congenital Anomalies : Craniofacial Anomalies 5 Sites Russell Silver Syndrome
Musculoskeletal Disorders : Congenital Anomalies : Dwarfism 3 Sites Mulibrey Nanism
Musculoskeletal Disorders : Congenital Anomalies : Dwarfism 3 Sites Robinow Syndrome
Conditions and Diseases : Musculoskeletal Disorders : Congenital Anomalies 3 Sites Sotos Syndrome
Conditions and Diseases : Musculoskeletal Disorders : Congenital Anomalies 5 Sites